P12314
PR
Gene name |
FCGR1A (FCG1, FCGR1, IGFR1) |
Protein name |
High affinity immunoglobulin gamma Fc receptor I |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2209 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
8 structures for P12314
290 variants for P12314
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000015950 rs74315310 CA124369 |
92 | R>* | IGG receptor I, phagocytic, familial deficiency of [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000852293 rs637882 CA29965355 |
246 | Q>* | Peritoneal Gliomatosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA1069518 rs782782273 |
2 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1431743135 CA342234976 |
3 | F>V | No |
ClinGen TOPMed |
|
|
CA342235035 rs1321921320 |
6 | T>S | No |
ClinGen TOPMed |
|
|
CA342235040 rs1407148531 |
6 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA342235102 rs1553750366 |
10 | W>* | No |
ClinGen gnomAD |
|
|
CA342235200 rs1316465664 |
12 | P>Q | No |
ClinGen TOPMed |
|
|
rs1553750423 CA342235214 |
13 | V>A | No |
ClinGen gnomAD |
|
|
rs1363963417 CA342235209 |
13 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1553750423 CA342235216 |
13 | V>G | No |
ClinGen gnomAD |
|
|
rs1553750426 CA342235234 |
14 | D>E | No |
ClinGen gnomAD |
|
|
CA342235261 rs1286782269 |
17 | V>L | No |
ClinGen TOPMed |
|
|
rs138447715 CA1069527 |
19 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1553750482 CA342235617 |
22 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 22 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553750485 CA342235752 |
28 | P>H | No |
ClinGen gnomAD |
|
|
CA342235727 rs1283617164 |
28 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA342235760 rs1553750487 |
29 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1227555825 CA342235788 |
30 | W>C | No |
ClinGen TOPMed |
|
|
CA1069528 rs782282355 |
30 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 32 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782603965 CA29963521 |
32 | S>N | No |
ClinGen Ensembl |
|
|
rs587640508 CA29963536 |
33 | V>M | No |
ClinGen 1000Genomes TOPMed |
|
| TCGA novel | 35 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342235947 rs1391946899 |
36 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA342235943 rs1391946899 |
36 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 37 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553750496 CA342236021 |
38 | T>S | No |
ClinGen gnomAD |
|
|
CA342236040 rs1408592965 |
39 | V>E | No |
ClinGen TOPMed |
|
|
CA1069531 rs7531523 |
39 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs7531523 CA342236037 |
39 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342236054 rs1553750499 |
40 | T>N | No |
ClinGen gnomAD |
|
|
CA1069532 rs782357137 |
41 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA342236093 rs1453523229 |
42 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs369669108 CA29963551 |
42 | H>Y | No |
ClinGen ESP TOPMed |
|
|
rs782120618 CA1069534 |
46 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1069535 rs782421281 |
47 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1553750506 CA342236294 |
50 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs782696264 CA1069538 |
52 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 52 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782696264 CA342236347 |
52 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA342236362 rs1553750511 |
53 | S>P | No |
ClinGen gnomAD |
|
|
rs1553750514 CA342236407 |
55 | Q>L | No |
ClinGen gnomAD |
|
|
rs1181226827 CA342236477 |
58 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 60 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1069539 rs141593900 |
62 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1263403033 CA342236564 |
62 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA342236591 rs1262314878 |
64 | Q>E | No |
ClinGen TOPMed |
|
|
rs373590676 CA1069542 |
65 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1069541 rs782772836 |
65 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs144081076 CA1069543 |
66 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1069544 rs144081076 |
66 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1069546 rs782447835 |
67 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs782606348 CA1069547 |
68 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1553750521 CA342236677 |
69 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1553750521 COSM3801702 CA342236674 |
69 | S>N | Variant assessed as Somatic; 4.638e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA342236699 rs1450549773 |
70 | Y>C | No |
ClinGen TOPMed |
|
|
CA342236721 rs1385212646 |
71 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs782377820 CA1069550 |
76 | S>T | No |
ClinGen ExAC |
|
| TCGA novel | 77 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782685653 CA1069551 |
79 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1553750525 CA342236886 |
80 | S>N | No |
ClinGen gnomAD |
|
|
CA342236889 rs782280860 |
80 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA342236903 rs1571382072 |
81 | G>A | No |
ClinGen Ensembl |
|
|
rs1553750527 CA342236912 |
82 | E>* | No |
ClinGen gnomAD |
|
|
rs1383254449 CA342236931 |
83 | Y>C | No |
ClinGen TOPMed |
|
|
rs587609141 CA1069553 |
84 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342236991 rs781924551 |
86 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1553750534 CA342237014 |
88 | G>A | No |
ClinGen gnomAD |
|
|
rs782099581 CA1069555 |
90 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA29963692 rs200095213 |
91 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1161084692 CA342237058 |
92 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1445953784 CA342237071 |
93 | S>T | No |
ClinGen TOPMed |
|
|
rs782112294 CA1069557 |
94 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs139887419 CA1069558 |
95 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1243277589 CA342237094 |
95 | P>T | No |
ClinGen TOPMed |
|
|
rs1553750540 CA342237112 |
96 | I>T | No |
ClinGen gnomAD |
|
|
CA342237124 rs1444994199 |
97 | Q>P | No |
ClinGen TOPMed |
|
| TCGA novel | 99 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781880153 CA1069559 |
99 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1069560 rs782068172 |
100 | I>L | No |
ClinGen ExAC |
|
|
rs781836297 CA1069562 |
102 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs782461099 CA1069563 |
102 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342237198 rs1289545734 |
103 | G>C | No |
ClinGen TOPMed |
|
|
rs587658060 CA1069585 |
103 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782517690 CA1069586 |
104 | W>* | No |
ClinGen ExAC gnomAD |
|
|
VAR_019522 CA1069588 rs619322 |
105 | L>P | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA342237418 rs1553751083 |
106 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 107 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375716672 CA342237495 |
112 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375716672 CA1069589 |
112 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342237502 rs1248230268 |
113 | V>I | No |
ClinGen TOPMed |
|
|
CA1069592 rs619366 |
115 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs619366 CA1069591 |
115 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553751098 CA342237543 |
116 | E>Q | No |
ClinGen gnomAD |
|
|
rs587711901 CA29964529 |
121 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1069595 rs782420568 |
121 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345884536 CA342237595 |
122 | L>S | No |
ClinGen TOPMed |
|
|
rs782021612 CA1069596 |
122 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs782064711 CA1069597 |
123 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA342237619 CA342237620 rs1235386217 |
125 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1069598 rs782702206 COSM255369 |
126 | A>V | Variant assessed as Somatic; 0.0003237 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 128 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1069600 rs782092177 |
129 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1069601 rs782784173 |
130 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376805952 CA342237657 |
131 | L>M | No |
ClinGen TOPMed |
|
|
CA342237667 rs1571391426 |
132 | V>G | No |
ClinGen Ensembl |
|
|
CA342237674 rs1553751114 |
133 | Y>* | No |
ClinGen gnomAD |
|
|
CA1069603 rs782560110 |
134 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA526258810 rs1553751118 |
136 | L>E | No |
ClinGen gnomAD |
|
|
CA342237692 rs782778681 |
136 | L>H | No |
ClinGen ExAC TOPMed |
|
|
CA1069604 rs782778681 |
136 | L>P | No |
ClinGen ExAC TOPMed |
|
|
CA1069605 rs370037400 |
139 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370037400 CA342237711 |
139 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342237712 rs374578876 |
139 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM297426 rs374578876 CA1069606 |
139 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 141 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342237722 rs1419500665 |
141 | G>S | No |
ClinGen TOPMed |
|
|
rs1417052622 CA342237741 |
143 | A>G | No |
ClinGen TOPMed |
|
|
rs781820002 CA1069608 |
144 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342237777 rs1259709797 |
148 | H>R | No |
ClinGen TOPMed |
|
|
CA1069609 rs782518905 |
149 | W>G | No |
ClinGen ExAC TOPMed |
|
|
rs1485678599 CA342237801 |
151 | S>C | No |
ClinGen TOPMed |
|
|
rs1553751152 CA342237809 |
152 | N>K | No |
ClinGen gnomAD |
|
|
rs782684629 CA1069610 |
152 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA342237821 rs1553751158 |
154 | T>I | No |
ClinGen gnomAD |
|
|
rs782277716 CA342237823 |
155 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782277716 CA1069611 |
155 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1069612 rs782326669 |
158 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1553751166 CA342237856 |
160 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1069613 rs782561800 |
161 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782232847 CA1069614 |
161 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868934687 CA342237870 |
162 | H>Y | No |
ClinGen gnomAD |
|
|
CA342237880 rs1553751172 |
163 | N>S | No |
ClinGen gnomAD |
|
|
CA1069615 rs782351424 |
166 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA29964612 rs658149 |
171 | M>K | No |
ClinGen Ensembl |
|
|
CA342237939 rs1553751187 |
172 | G>R | No |
ClinGen gnomAD |
|
|
CA342237962 rs782122885 |
175 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs658160 CA1069618 |
175 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1069619 rs658160 |
175 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1069617 rs782122885 |
175 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3782355 rs782700593 CA1069621 |
177 | T>I | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1069622 rs781834840 |
178 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs782081012 CA1069623 |
179 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1069624 rs199556704 |
182 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs4058438 CA342238007 |
183 | V>I | No |
ClinGen Ensembl |
|
|
CA1069625 rs781851745 |
185 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs782539508 CA1069626 |
187 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA342238167 rs1298827641 |
189 | F>C | No |
ClinGen TOPMed |
|
|
CA1069648 rs200418525 |
190 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1069650 rs782538146 |
191 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1069649 rs781828294 |
191 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782759865 CA1069651 |
193 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1366071562 CA342238265 |
196 | A>T | No |
ClinGen TOPMed |
|
|
CA1069652 rs587747067 |
197 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342238319 rs1436568371 |
199 | T>A | No |
ClinGen TOPMed |
|
|
CA1069654 rs782581131 |
200 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1069655 rs782175842 |
200 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA342238350 rs1431280798 |
201 | P>Q | No |
ClinGen TOPMed |
|
|
CA342238358 rs1553751528 |
202 | L>F | No |
ClinGen gnomAD |
|
|
rs782609134 CA342238397 |
204 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA342238429 rs1175057007 |
207 | L>M | No |
ClinGen TOPMed |
|
|
CA1069658 rs782257311 |
208 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1069659 rs782376122 |
210 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587703889 CA29965288 |
211 | S>T | No |
ClinGen 1000Genomes |
|
|
CA1069661 rs587761873 |
215 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1553751542 CA342238582 |
218 | L>S | No |
ClinGen gnomAD |
|
|
CA342238608 rs1553751543 |
220 | R>S | No |
ClinGen gnomAD |
|
|
CA1069663 rs781973576 |
223 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1338887 CA29965320 |
224 | Q>* | No |
ClinGen Ensembl |
|
|
CA342238709 rs1553751546 |
229 | F>S | No |
ClinGen gnomAD |
|
|
CA342238722 rs1553751548 |
230 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 231 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342238728 rs1553751550 |
231 | M>V | No |
ClinGen gnomAD |
|
|
rs1553751552 CA342238763 |
233 | S>N | No |
ClinGen gnomAD |
|
|
CA1069666 rs201094582 |
234 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1069667 rs781994385 |
235 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs782164774 CA1069668 |
237 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782164774 CA342238805 |
237 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782812046 CA342238808 |
237 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA1069669 rs782812046 |
237 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs587746313 CA1069670 |
238 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1069671 rs782427636 |
239 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342238845 rs1281262392 |
240 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 241 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM74642 rs1349287179 CA342238888 |
245 | Y>H | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA342238896 rs637882 |
246 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs782741040 CA1069672 |
247 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1301953072 CA342238931 |
249 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs781825271 CA1069673 |
250 | A>S | No |
ClinGen ExAC |
|
|
CA342238957 rs1553751574 |
252 | R>T | No |
ClinGen gnomAD |
|
|
rs1553751577 CA342238969 |
253 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 254 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553751579 CA342239023 |
258 | Y>C | No |
ClinGen gnomAD |
|
|
CA1069674 rs782520142 |
259 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342239044 rs1456661001 |
260 | C>Y | No |
ClinGen TOPMed |
|
|
rs587648643 CA1069675 COSM895370 |
261 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1473640862 CA342239067 |
262 | A>G | No |
ClinGen TOPMed |
|
|
CA342239065 rs1553751582 |
262 | A>S | No |
ClinGen gnomAD |
|
|
CA342239073 rs1251513620 |
263 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 263 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342239091 rs1181503593 |
265 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 265 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs587727639 CA1069676 |
266 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342239112 rs1553751588 |
267 | G>* | No |
ClinGen gnomAD |
|
|
CA342239117 rs1571396269 |
267 | G>A | No |
ClinGen Ensembl |
|
|
rs1553751588 CA342239115 |
267 | G>R | No |
ClinGen gnomAD |
|
|
CA342239147 rs1571396288 |
270 | L>F | No |
ClinGen Ensembl |
|
|
CA342239161 rs1211397139 |
271 | K>R | No |
ClinGen TOPMed |
|
|
rs782448594 CA1069677 |
272 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2257244 CA1069678 |
272 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342239189 CA342239190 rs1229685958 |
273 | S>R | No |
ClinGen TOPMed |
|
|
CA342239180 rs1553751609 |
273 | S>R | No |
ClinGen gnomAD |
|
|
CA342239192 rs1553751613 |
274 | P>A | No |
ClinGen gnomAD |
|
|
CA342239255 rs1393937754 |
277 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1311481969 CA342239247 |
277 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1553751624 CA342239262 |
278 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 279 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 281 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782686067 CA1069687 |
283 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1553751816 COSM1294964 CA342240489 |
286 | P>S | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs782077501 CA1069689 |
287 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553751819 CA342240517 |
287 | T>I | No |
ClinGen gnomAD |
|
|
CA1069690 rs587685152 |
289 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342240751 rs1553751823 |
298 | A>E | No |
ClinGen gnomAD |
|
|
rs1553751827 CA342240754 |
299 | V>M | No |
ClinGen gnomAD |
|
|
CA29965672 rs12078005 |
301 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA342240799 rs1346007587 |
302 | M>I | No |
ClinGen TOPMed |
|
|
rs587768502 CA1069693 |
302 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782805229 CA1069694 |
303 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 304 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781793614 CA1069695 |
305 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA342240852 rs1553751831 |
306 | N>K | No |
ClinGen gnomAD |
|
|
CA1069696 rs782500863 |
306 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA1069697 rs782602492 |
308 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1553751834 CA342240893 |
309 | L>F | No |
ClinGen gnomAD |
|
|
CA342240912 rs1443104333 |
310 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1069699 rs782512606 |
311 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1069698 rs781873802 |
311 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA342240937 rs782691099 |
312 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1069700 rs782691099 |
312 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145342974 CA1069702 |
314 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145342974 CA1069703 |
314 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782220562 CA1069704 |
314 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342240967 rs782220562 |
314 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782220562 CA1069705 |
314 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553751841 CA342240976 |
315 | K>E | No |
ClinGen gnomAD |
|
|
CA342241002 rs1361270347 |
316 | E>G | No |
ClinGen TOPMed |
|
|
CA342241038 rs1315507859 |
318 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 321 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM462880 rs1571399127 CA342241130 |
322 | K>E | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1297720586 CA342241181 |
323 | W>* | No |
ClinGen TOPMed |
|
|
rs782114637 CA1069707 |
323 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050204 CA1069708 |
324 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342241222 rs1553751852 |
325 | L>* | No |
ClinGen gnomAD |
|
|
rs1553751853 CA342241261 |
327 | I>N | No |
ClinGen gnomAD |
|
|
rs986365039 CA29965796 |
335 | K>E | No |
ClinGen Ensembl |
|
|
CA29965799 rs371505652 |
337 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA1069711 rs1050208 |
338 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782053090 CA342241509 |
341 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1069712 rs782053090 |
341 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371839579 CA342241547 |
343 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA342241658 rs1195957094 |
348 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1428529356 CA342241710 |
350 | E>Q | No |
ClinGen TOPMed |
|
|
CA1069714 rs140559849 |
352 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553751895 CA342241819 |
354 | Q>H | No |
ClinGen gnomAD |
|
|
CA342241858 rs1553751896 |
356 | Q>R | No |
ClinGen gnomAD |
|
|
rs1553751900 CA342241921 |
358 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 358 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs587645491 RCV000910018 |
359 | E>missing | No |
ClinVar dbSNP |
|
|
CA342241948 rs1553751901 |
360 | Q>K | No |
ClinGen gnomAD |
|
|
rs1553751903 CA342242010 |
363 | E>K | No |
ClinGen gnomAD |
|
|
CA1069718 rs782766949 |
364 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782130001 CA1069717 |
364 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA342242042 rs782766949 |
364 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342242054 rs1553751912 |
365 | V>E | No |
ClinGen gnomAD |
|
|
rs1553751910 CA342242049 |
365 | V>L | No |
ClinGen gnomAD |
|
|
CA1069719 rs781909706 |
366 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs587772264 CA1069721 |
367 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1069720 COSM1238881 rs782545403 |
367 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA342242109 rs1553751918 |
369 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1069724 rs782489862 |
372 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA342242162 rs782489862 |
372 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs587673098 CA342242166 |
373 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1069725 rs587673098 |
373 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1069727 rs587760613 |
374 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs587760613 CA29965936 |
374 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1069730 rs374741011 |
375 | T>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374741011 CA1069731 |
375 | T>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with P12314
10 regional properties for P12314
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Immunoglobulin subtype 2 | 34 - 92 | IPR003598-1 |
| domain | Immunoglobulin subtype 2 | 115 - 175 | IPR003598-2 |
| domain | Immunoglobulin subtype 2 | 203 - 267 | IPR003598-3 |
| domain | Immunoglobulin subtype | 28 - 101 | IPR003599-1 |
| domain | Immunoglobulin subtype | 109 - 186 | IPR003599-2 |
| domain | Immunoglobulin subtype | 197 - 281 | IPR003599-3 |
| domain | Immunoglobulin-like domain | 22 - 86 | IPR007110-1 |
| domain | Immunoglobulin-like domain | 95 - 184 | IPR007110-2 |
| domain | Immunoglobulin-like domain | 190 - 277 | IPR007110-3 |
| domain | Immunoglobulin | 198 - 272 | IPR013151 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| clathrin-coated endocytic vesicle membrane | The lipid bilayer surrounding a clathrin-coated endocytic vesicle. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| high-affinity IgG receptor activity | Combining with high affinity with an immunoglobulin of an IgG isotype via the Fc region, and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. |
| IgG binding | Binding to an immunoglobulin of an IgG isotype. |
| transmembrane signaling receptor activity | Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| antibody-dependent cellular cytotoxicity | Cytolysis of target cells by natural killer cells, eosinophils, neutrophils, monocytes, or macrophages following engagement of antibodies bound to the target cells by Fc receptors on the effector cells. |
| antigen processing and presentation of exogenous peptide antigen via MHC class I | The process in which an antigen-presenting cell expresses a peptide antigen of exogenous origin on its cell surface in association with an MHC class I protein complex. The peptide antigen is typically, but not always, processed from a whole protein. Class I here refers to classical class I molecules. |
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| defense response to bacterium | Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| phagocytosis, engulfment | The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis. |
| phagocytosis, recognition | The initial step in phagocytosis involving adhesion to bacteria, immune complexes and other particulate matter, or an apoptotic cell and based on recognition of factors such as bacterial cell wall components, opsonins like complement and antibody or protein receptors and lipids like phosphatidyl serine, and leading to intracellular signaling in the phagocytosing cell. |
| positive regulation of phagocytosis | Any process that activates or increases the frequency, rate or extent of phagocytosis. |
| positive regulation of protein tyrosine kinase activity | Any process that increases the rate, frequency, or extent of protein tyrosine kinase activity. |
| positive regulation of type IIa hypersensitivity | Any process that activates or increases the frequency, rate or extent of type IIa hypersensitivity, a type of inflammatory response. |
| positive regulation of type III hypersensitivity | Any process that activates or increases the frequency, rate or extent of type III hypersensitivity, a type of inflammatory response. |
| receptor-mediated endocytosis | An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. |
| regulation of immune response | Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWFLTTLLLW | VPVDGQVDTT | KAVITLQPPW | VSVFQEETVT | LHCEVLHLPG | SSSTQWFLNG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TATQTSTPSY | RITSASVNDS | GEYRCQRGLS | GRSDPIQLEI | HRGWLLLQVS | SRVFTEGEPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ALRCHAWKDK | LVYNVLYYRN | GKAFKFFHWN | SNLTILKTNI | SHNGTYHCSG | MGKHRYTSAG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ISVTVKELFP | APVLNASVTS | PLLEGNLVTL | SCETKLLLQR | PGLQLYFSFY | MGSKTLRGRN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TSSEYQILTA | RREDSGLYWC | EAATEDGNVL | KRSPELELQV | LGLQLPTPVW | FHVLFYLAVG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IMFLVNTVLW | VTIRKELKRK | KKWDLEISLD | SGHEKKVISS | LQEDRHLEEE | LKCQEQKEEQ |
| 370 | |||||
| LQEGVHRKEP | QGAT |