P30273 · FCERG_HUMAN
- ProteinHigh affinity immunoglobulin epsilon receptor subunit gamma
- GeneFCER1G
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Filter Consequence
Filter Provenance
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | |
---|---|---|---|---|---|---|
COSV57156355 | 1 | M>? | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs774576786 | 3 | P>A | ExAC gnomAD | |||
rs774576786 | 3 | P>S | ExAC gnomAD | |||
rs773719689 | 4 | A>V | Ensembl | |||
rs1368658247 | 5 | V>A | gnomAD | |||
COSV99248534 rs144682477 | 5 | V>M | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
COSV57154295 rs753158675 | 8 | L>F | cosmic curated ExAC TOPMed gnomAD | |||
rs1156294546 | 8 | L>P | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
COSV57154295 | 8 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs764131080 | 10 | L>F | ExAC TOPMed gnomAD | |||
rs1481905759 | 10 | L>H | gnomAD | |||
rs764131080 | 10 | L>I | ExAC TOPMed gnomAD | |||
rs754110536 | 11 | L>I | ExAC TOPMed gnomAD | |||
rs778831663 | 13 | V>F | ExAC gnomAD | |||
COSV106090210 rs750186006 | 14 | E>G | cosmic curated ExAC TOPMed gnomAD | |||
rs758150032 | 15 | Q>K | ExAC gnomAD | |||
COSV57156312 | 16 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV99248498 rs546630081 | 17 | A>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP | ||
rs1457965574 | 17 | A>G | TOPMed gnomAD | |||
rs1457965574 | 17 | A>V | TOPMed gnomAD | |||
rs1666083375 | 18 | A>G | TOPMed | |||
TCGA novel | 18 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs772373729 | 20 | G>* | ExAC TOPMed gnomAD | |||
COSV99248556 rs2102064954 | 20 | G>E | cosmic curated Ensembl | |||
rs772373729 | 20 | G>R | ExAC TOPMed gnomAD | |||
rs147892644 | 21 | E>D | ESP ExAC TOPMed gnomAD | |||
COSV99248058 rs538957910 | 22 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC dbSNP gnomAD | ||
rs538957910 | 22 | P>L | 1000Genomes ExAC gnomAD | |||
rs538957910 | 22 | P>R | 1000Genomes ExAC gnomAD | |||
rs147074256 | 22 | P>T | 1000Genomes ESP ExAC TOPMed gnomAD | |||
TCGA novel | 23 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs201959126 | 24 | L>P | 1000Genomes ExAC gnomAD | |||
rs1362743954 | 26 | Y>C | TOPMed gnomAD | |||
rs1449359923 | 27 | I>T | gnomAD | |||
rs1666083786 | 27 | I>V | Ensembl | |||
rs765320498 | 28 | L>P | ExAC gnomAD | |||
rs765320498 | 28 | L>R | ExAC gnomAD | |||
rs1666083844 | 28 | L>V | Ensembl | |||
rs763210776 | 30 | A>G | ExAC TOPMed gnomAD | |||
rs773345440 | 30 | A>T | ExAC gnomAD | |||
rs1571631128 | 31 | I>V | Ensembl | |||
rs201574497 | 32 | L>M | 1000Genomes ExAC TOPMed | |||
rs1301839254 | 33 | F>L | gnomAD | |||
rs1017754515 | 34 | L>V | TOPMed | |||
COSV57154434 | 36 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1240943356 | 36 | G>V | Ensembl | |||
COSV99248130 | 37 | I>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV57154979 rs1257261806 | 38 | V>I | cosmic curated gnomAD | |||
COSV57155461 | 39 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs2102065006 | 39 | L>P | Ensembl | |||
rs1318149677 | 39 | L>V | gnomAD | |||
rs1666084951 | 40 | T>I | gnomAD | |||
rs1571631168 | 40 | T>P | Ensembl | |||
COSV57154525 rs200338884 | 41 | L>F | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
COSV57154525 | 41 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
COSV57154228 COSV99248145 rs752641092 | 45 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs752641092 | 45 | R>G | ExAC TOPMed gnomAD | |||
COSV57154366 rs1191289789 | 45 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | ||
COSV99248107 rs1288089175 | 48 | I>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP | ||
TCGA novel | 49 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs752628639 | 50 | V>A | ExAC TOPMed gnomAD | |||
rs756068424 | 51 | R>G | ExAC gnomAD | |||
rs1412094690 | 51 | R>L | TOPMed gnomAD | |||
rs1412094690 | 51 | R>P | TOPMed gnomAD | |||
rs1412094690 | 51 | R>Q | TOPMed gnomAD | |||
rs1666088879 | 52 | K>E | TOPMed | |||
rs1382612274 | 55 | I>T | Ensembl | |||
rs1666089366 | 55 | I>V | TOPMed | |||
rs373426724 | 56 | T>I | TOPMed gnomAD | |||
rs1450627913 | 56 | T>P | TOPMed gnomAD | |||
rs1571631394 | 57 | S>I | TOPMed | |||
rs1571631394 | 57 | S>T | TOPMed | |||
rs763579903 | 58 | Y>C | ExAC TOPMed gnomAD | |||
rs758031936 | 60 | K>R | ExAC gnomAD | |||
TCGA novel | 60 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV99248519 | 61 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs781474375 | 62 | D>E | ExAC gnomAD | |||
rs1666100539 | 62 | D>G | Ensembl | |||
rs753109167 | 63 | G>A | ExAC gnomAD | |||
rs1326682490 | 63 | G>C | TOPMed gnomAD | |||
COSV57154861 rs753109167 | 63 | G>D | cosmic curated ExAC gnomAD | |||
rs1326682490 | 63 | G>S | TOPMed gnomAD | |||
rs1558090226 | 64 | V>I | Ensembl | |||
rs756386336 | 66 | T>A | ExAC gnomAD | |||
rs1477088041 | 66 | T>M | TOPMed gnomAD | |||
rs930870959 | 67 | G>D | TOPMed gnomAD | |||
rs754457378 | 67 | G>S | ExAC gnomAD | |||
rs757838295 | 70 | T>A | ExAC gnomAD | |||
rs2102065549 | 70 | T>I | Ensembl | |||
rs779497508 | 72 | N>K | ExAC TOPMed gnomAD | |||
rs1666106861 | 76 | Y>* | TOPMed | |||
COSV57154997 rs1228649709 | 77 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | ||
rs1228649709 | 77 | E>Q | TOPMed gnomAD | |||
rs1272124230 | 79 | L>V | gnomAD | |||
rs878909701 | 81 | H>Q | Ensembl | |||
COSV57155305 | 82 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
COSV57155200 rs780351889 | 82 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | ||
rs1452935758 | 86 | Q>* | TOPMed gnomAD | |||
rs768542265 | 86 | Q>H | ExAC gnomAD | |||
TCGA novel | 87 | *>Y | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||