P01011
PR
Gene name |
SERPINA3 (AACT, GIG24, GIG25) |
Protein name |
Alpha-1-antichymotrypsin |
Names |
ACT, Cell growth-inhibiting gene 24/25 protein, Serpin A3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:12 |
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
471 variants for P01011
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_006974 CA127755 rs1800463 RCV000019665 |
78 | L>P | ANTICHYMOTRYPSIN BOCHUM 1 Bochum-1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs17473 CA127757 RCV000485718 VAR_006976 RCV000019666 |
252 | P>A | ANTICHYMOTRYPSIN BONN 1 Bonn-1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA127753 RCV000490276 RCV000019663 rs116929575 |
414 | M>V | ANTICHYMOTRYPSIN ISEHARA 1 Peripheral arterial occlusive disease 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs764398968 CA390853043 |
2 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs764398968 CA265879345 |
2 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs56871159 CA390853058 |
3 | R>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7329643 rs56871159 |
3 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs56871159 CA390853057 |
3 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390853075 rs1304257141 |
4 | M>I | No |
ClinGen gnomAD |
|
|
CA390853071 rs1390441299 |
4 | M>R | No |
ClinGen gnomAD |
|
|
CA390853090 rs1595094028 |
5 | L>F | No |
ClinGen Ensembl |
|
|
CA7329644 rs138583013 |
6 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1026125284 CA265879357 |
6 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1566845902 CA390853107 |
7 | L>F | No |
ClinGen Ensembl |
|
|
CA7329646 rs771236701 |
9 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390853128 rs4934 |
9 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA127759 RCV000019667 VAR_006973 rs4934 RCV000455742 |
9 | A>T | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA390853150 rs1595094071 |
11 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 11 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746010449 CA7329648 |
12 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473582785 CA390853164 |
12 | L>R | No |
ClinGen gnomAD |
|
|
CA7329653 rs111634179 |
14 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs886905373 CA265879477 |
14 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs111634179 CA7329652 |
14 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1381543678 CA390853200 |
15 | A>V | No |
ClinGen Ensembl |
|
|
CA7329655 rs766215262 |
17 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 18 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7329657 rs754648760 |
19 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs764923559 CA7329658 |
20 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7329659 rs752191080 |
20 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1217951769 CA390853283 |
23 | C>S | No |
ClinGen gnomAD |
|
|
CA7329660 rs149527088 |
24 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7329661 rs144060757 |
25 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390853316 rs144060757 COSM470390 |
25 | P>T | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1272830762 CA390853348 |
27 | S>I | No |
ClinGen gnomAD |
|
|
rs955058738 CA265879545 |
28 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1484156842 CA390853357 |
28 | P>T | No |
ClinGen gnomAD |
|
|
rs999024922 CA265879546 |
29 | L>F | No |
ClinGen TOPMed |
|
|
COSM1707828 rs536978516 CA7329663 |
31 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed |
| TCGA novel | 32 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781476269 CA7329666 |
32 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7329671 rs749355535 |
37 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs554823824 CA7329673 |
38 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1434956662 CA390853507 |
39 | Q>* | No |
ClinGen gnomAD |
|
|
CA390853517 rs1295745967 |
39 | Q>H | No |
ClinGen gnomAD |
|
|
rs1434956662 CA390853506 |
39 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390853524 rs1595094203 |
40 | D>A | No |
ClinGen Ensembl |
|
|
CA390853532 rs1368905402 |
40 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs373526796 CA7329675 COSM1225273 |
41 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs867783314 CA390853540 |
41 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs867783314 COSM3793990 CA265879613 |
41 | R>Q | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs776342067 CA7329676 |
42 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1295819111 CA390853542 |
42 | G>R | No |
ClinGen gnomAD |
|
|
CA7329677 rs759346589 |
43 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs752346883 CA390853579 |
45 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM35352 CA7329679 rs752346883 |
45 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1595094229 CA390853592 |
46 | D>A | No |
ClinGen Ensembl |
|
|
COSM287684 rs763528043 CA7329681 |
48 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 49 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390853617 rs1353262770 |
50 | A>D | No |
ClinGen TOPMed |
|
|
rs751064753 CA7329682 |
50 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA390853628 rs1249636419 |
52 | A>D | No |
ClinGen gnomAD |
|
|
CA7329686 rs188602956 |
52 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7329687 rs780159884 |
53 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA390853641 rs1406660622 |
54 | V>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7329689 rs768856474 |
54 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779196006 CA7329690 |
55 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7329691 CA390853656 rs748220497 |
56 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390853657 rs770816070 |
57 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7329692 rs770816070 |
57 | A>T | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776594089 CA7329693 |
58 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7329694 rs200348449 |
59 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 60 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390853685 rs1424796638 |
61 | Y>C | No |
ClinGen TOPMed |
|
|
rs1283757374 CA390853721 |
66 | L>P | No |
ClinGen gnomAD |
|
|
rs929299041 CA390853732 |
68 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA265879768 rs929299041 |
68 | A>T | No |
ClinGen TOPMed |
|
|
rs1377231297 CA390853735 |
68 | A>V | No |
ClinGen gnomAD |
|
|
rs1230163882 CA390853737 |
69 | P>A | No |
ClinGen gnomAD |
|
|
rs369533733 CA265879780 |
70 | D>H | No |
ClinGen Ensembl |
|
|
CA390853762 rs1328453443 |
72 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA390853761 rs1328453443 |
72 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390853769 rs1269793658 |
73 | V>A | No |
ClinGen gnomAD |
|
|
rs762660408 CA7329700 |
73 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7329703 rs751117847 |
74 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1473557768 CA390853783 |
75 | F>L | No |
ClinGen gnomAD |
|
|
rs1800463 CA265879819 |
78 | L>Q | No |
ClinGen Ensembl |
|
|
CA265879847 rs908497253 |
79 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA265879842 rs908497253 |
79 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7329704 rs761279236 |
79 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs778805359 CA390853805 |
80 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778805359 CA7329706 |
80 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595094373 CA390853811 |
81 | S>P | No |
ClinGen Ensembl |
|
|
CA390853820 rs1595094380 |
82 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 83 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199923400 CA7329708 |
83 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7329709 rs754246590 |
83 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61737405 CA7329712 |
86 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7329714 rs781007245 |
88 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA265879911 rs771122852 |
89 | L>P | No |
ClinGen Ensembl |
|
|
rs1566846083 CA390853860 |
90 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 90 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7329717 rs775322306 |
91 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1329775191 | 91 | A>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775322306 CA390853867 |
91 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762713568 CA7329718 |
91 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 92 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs542942614 CA7329720 |
93 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA265879931 rs1031881430 |
93 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 94 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138782301 CA7329723 |
95 | T>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA7329722 rs766992484 |
95 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs761308087 CA7329724 |
99 | I>N | No |
ClinGen ExAC |
|
|
CA7329725 rs766777744 |
101 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA265879987 rs776645118 |
101 | K>R | No |
ClinGen Ensembl |
|
|
rs1161470861 CA390853936 |
102 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs375245228 COSM167999 CA7329727 |
108 | T>M | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1210384521 CA390853987 |
110 | T>A | No |
ClinGen TOPMed |
|
|
rs752910199 CA7329729 |
110 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA390853999 rs1249398376 |
112 | E>A | No |
ClinGen TOPMed |
|
|
rs971314943 CA265880020 |
112 | E>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs372323053 CA7329731 |
113 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390854009 rs1595094484 |
114 | E>K | No |
ClinGen Ensembl |
|
|
rs756126214 CA7329733 |
116 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7329734 rs779934553 |
117 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1219409865 CA390854033 |
117 | Q>R | No |
ClinGen Ensembl |
|
|
rs749111661 CA7329735 |
118 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1219460732 CA390854038 |
118 | S>R | No |
ClinGen gnomAD |
|
|
CA390854045 rs1298654384 |
119 | F>I | No |
ClinGen TOPMed |
|
|
CA390854063 rs1595094503 |
121 | H>P | No |
ClinGen Ensembl |
|
|
rs571405902 CA7329737 |
121 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763399564 CA265880113 |
122 | L>P | No |
ClinGen Ensembl |
|
|
CA390854076 rs1349063900 |
123 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1349063900 CA390854077 |
123 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7329741 rs116880457 |
124 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7329743 rs777232494 |
124 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA265880150 rs777232494 |
124 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7329742 rs116880457 |
124 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390854084 rs759994325 |
125 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7329744 rs759994325 |
125 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7329745 rs765633245 |
126 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM470391 rs145819878 CA7329746 |
127 | N>S | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs758704953 CA7329747 |
128 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7329749 rs751699687 |
128 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7329748 rs373891589 |
128 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1437009487 CA390854109 |
130 | S>G | No |
ClinGen gnomAD |
|
|
rs193129853 CA7329751 |
131 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA265880209 rs1047504135 |
136 | S>N | No |
ClinGen TOPMed |
|
|
rs778742555 CA7329754 |
136 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA265880196 rs11538070 |
136 | S>R | No |
ClinGen Ensembl |
|
|
CA265880212 rs941246333 |
137 | M>I | No |
ClinGen Ensembl |
|
|
CA7329755 rs747878301 |
137 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390854155 rs747878301 |
137 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM554138 CA7329756 rs1555386065 |
138 | G>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1453803275 CA390854182 |
140 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265880226 rs761439505 |
141 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs550775093 CA265880233 |
143 | V>G | No |
ClinGen 1000Genomes |
|
|
rs771801448 CA7329760 COSM1728011 |
145 | E>D | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1566846198 CA390854244 COSM249638 |
145 | E>K | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs569265798 CA7329761 |
146 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs536239718 CA7329762 |
147 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7329766 rs765827485 |
152 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1005976329 CA265880277 |
153 | F>L | No |
ClinGen TOPMed |
|
|
CA7329767 rs775971119 |
154 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1297797724 CA390854366 |
155 | E>G | No |
ClinGen gnomAD |
|
|
rs1016947067 CA390854399 |
157 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1016947067 CA265880300 |
157 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390854426 rs1481964711 |
159 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs958801966 CA265880324 |
160 | L>P | No |
ClinGen TOPMed |
|
|
rs761892260 CA7329771 |
161 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA7329770 rs566778767 |
161 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1432471646 CA390854451 |
162 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA390854460 rs1214824965 |
162 | G>V | No |
ClinGen gnomAD |
|
|
CA7329772 rs767516793 |
163 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7329774 rs754963974 |
164 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754963974 CA7329775 |
164 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs866271505 CA390854490 |
165 | A>S | No |
ClinGen Ensembl |
|
|
CA265880366 rs866271505 |
165 | A>T | No |
ClinGen Ensembl |
|
|
CA390854496 rs1361953158 |
165 | A>V | No |
ClinGen TOPMed |
|
|
CA265880374 rs892818858 |
166 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 167 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_006975 | 167 | A>G | No | UniProt | |
|
rs1185570531 CA390854510 |
167 | A>T | No |
ClinGen gnomAD |
|
|
CA390854547 rs1566846250 |
169 | D>E | No |
ClinGen Ensembl |
|
|
CA390854537 rs1181391988 |
169 | D>H | No |
ClinGen TOPMed |
|
|
CA7329780 rs777497910 |
170 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM959234 CA7329779 rs370400377 |
170 | F>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs746578459 CA7329781 |
171 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1401116608 CA390854581 |
172 | D>A | No |
ClinGen gnomAD |
|
|
rs1401116608 CA390854583 |
172 | D>G | No |
ClinGen gnomAD |
|
|
rs770704622 CA7329782 |
172 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1332042508 CA390854600 |
173 | S>L | No |
ClinGen Ensembl |
|
|
CA7329783 rs780906907 |
174 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7329784 rs745350347 |
174 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7329785 rs770463400 |
176 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7329786 rs775820307 |
176 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA390854632 rs1327692617 |
177 | K>Q | No |
ClinGen gnomAD |
|
|
rs1566846279 CA390854662 |
179 | L>F | No |
ClinGen Ensembl |
|
|
CA7329789 rs201696762 |
180 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7329791 rs762087153 |
180 | I>M | No |
ClinGen ExAC |
|
|
CA7329790 rs538754919 |
180 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7329794 rs760709039 |
182 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs556765561 CA7329793 |
182 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA390854722 rs575236825 |
183 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7329796 COSM1678223 rs542255755 |
184 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs950804088 CA265880521 |
186 | N>K | No |
ClinGen Ensembl |
|
|
rs867795954 CA265880524 |
187 | G>E | No |
ClinGen Ensembl |
|
|
CA390854785 rs1159593218 |
188 | T>S | No |
ClinGen gnomAD |
|
|
CA7329798 rs146703583 |
189 | R>G | No |
ClinGen ESP ExAC TOPMed |
|
|
CA390854806 rs1375667847 |
190 | G>E | No |
ClinGen gnomAD |
|
|
CA390854802 rs1304165639 |
190 | G>R | No |
ClinGen gnomAD |
|
|
CA390854808 rs1375667847 |
190 | G>V | No |
ClinGen gnomAD |
|
|
CA390854820 rs1305606047 |
191 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1305606047 CA390854821 |
191 | K>R | No |
ClinGen TOPMed gnomAD |
|
| rs35203201 | 192 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390854832 rs1349231339 |
193 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA390854836 rs1230719721 |
193 | T>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA390854846 rs1308194683 |
195 | L>V | No |
ClinGen gnomAD |
|
|
rs561175087 CA7329801 |
197 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7329802 rs745401611 |
198 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7329803 rs769377662 |
199 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs780623415 CA7329804 |
200 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1225274 rs145407426 CA7329807 |
201 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA390854885 rs1415636298 |
201 | S>P | No |
ClinGen TOPMed |
|
|
rs145407426 CA7329806 |
201 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1431288621 COSM1678224 CA390854899 |
203 | T>K | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7329810 rs774632112 |
204 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390854905 rs1376177855 |
204 | M>T | No |
ClinGen gnomAD |
|
|
CA265880617 rs974361600 |
204 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1428678227 CA390854915 |
205 | M>I | No |
ClinGen gnomAD |
|
|
CA390854911 rs1394856275 |
205 | M>K | No |
ClinGen gnomAD |
|
|
rs1394856275 CA390854912 |
205 | M>T | No |
ClinGen gnomAD |
|
|
CA7329811 rs138042195 |
205 | M>V | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
rs368397050 CA7329813 |
208 | V>M | No |
ClinGen ESP ExAC |
|
|
CA7329814 rs184704051 |
211 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390854951 rs1339403587 |
211 | I>T | No |
ClinGen gnomAD |
|
|
rs1246014674 CA390854957 |
212 | F>V | No |
ClinGen gnomAD |
|
|
rs986619783 CA265880640 |
213 | F>L | No |
ClinGen Ensembl |
|
|
rs769851864 CA7329855 |
215 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769851864 CA265884731 |
215 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390855318 rs1331781934 |
216 | K>* | No |
ClinGen TOPMed |
|
|
rs774434380 CA7329856 |
218 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 218 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265884733 rs747423141 |
219 | M>I | No |
ClinGen TOPMed |
|
|
CA7329857 rs761908125 |
220 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA390855412 rs1457598255 |
221 | F>C | No |
ClinGen Ensembl |
|
|
rs1437690740 CA390855404 |
221 | F>I | No |
ClinGen TOPMed |
|
|
rs1437690740 CA390855408 |
221 | F>V | No |
ClinGen TOPMed |
|
|
rs1457598255 CA390855417 |
221 | F>Y | No |
ClinGen Ensembl |
|
|
CA7329861 rs373313640 |
222 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390855433 rs1349849036 |
222 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7329862 rs773186771 |
223 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA265884809 rs200684001 |
223 | P>S | No |
ClinGen Ensembl |
|
|
CA7329863 rs567715410 |
225 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 226 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7329864 rs765975361 |
227 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349566939 CA390855521 |
228 | Q>* | No |
ClinGen gnomAD |
|
|
rs185981965 CA7329866 |
228 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7329865 rs143453310 |
228 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1352062272 CA390855555 CA390855553 |
230 | R>S | No |
ClinGen TOPMed |
|
|
rs1483031706 CA390855557 |
231 | F>I | No |
ClinGen gnomAD |
|
|
rs1180563394 CA390855581 |
232 | Y>C | No |
ClinGen gnomAD |
|
|
rs370200741 CA7329867 |
233 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390855589 rs1234971971 |
233 | L>S | No |
ClinGen gnomAD |
|
|
rs752194001 CA7329868 |
234 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423372931 CA390855613 |
235 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs879170588 CA265884881 |
237 | K>E | No |
ClinGen Ensembl |
|
|
rs76970295 CA7329869 RCV000879868 |
237 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7329870 rs189526562 |
238 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390855672 rs1446803052 |
238 | W>C | No |
ClinGen TOPMed |
|
|
rs751902774 CA7329871 |
239 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 239 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7329872 rs757591762 |
240 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA265884896 rs373108046 |
240 | M>T | No |
ClinGen gnomAD |
|
|
CA390855717 rs1359754476 |
242 | P>L | No |
ClinGen TOPMed |
|
|
rs140884476 CA7329873 |
242 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140884476 CA265884897 RCV000498437 |
242 | P>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7329875 rs770136097 |
243 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs781639416 CA7329876 |
244 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA390855756 rs1421884306 |
245 | S>G | No |
ClinGen gnomAD |
|
|
rs1159166887 CA390855758 |
245 | S>N | No |
ClinGen TOPMed |
|
|
rs749352163 CA7329877 |
248 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1339370798 CA390855836 |
250 | T>I | No |
ClinGen gnomAD |
|
|
rs1197017699 CA390855838 |
251 | I>V | No |
ClinGen gnomAD |
|
|
rs17473 CA7329879 |
252 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 253 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1438866712 CA390855861 |
254 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA265884968 rs868240398 |
254 | F>V | No |
ClinGen Ensembl |
|
|
CA390855863 rs139055497 |
255 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs536399107 CA7329881 |
255 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7329880 rs139055497 |
255 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7329883 rs374902447 COSM229564 |
257 | E>K | large_intestine skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390855885 rs1595097528 |
258 | E>G | No |
ClinGen Ensembl |
|
|
rs1319307412 CA390855898 |
260 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs377578870 CA7329884 |
261 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377578870 CA7329885 |
261 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390855907 rs1427982854 |
262 | T>A | No |
ClinGen gnomAD |
|
|
rs1427982854 CA390855908 |
262 | T>S | No |
ClinGen gnomAD |
|
|
CA390855914 rs1294760575 |
263 | V>A | No |
ClinGen TOPMed |
|
|
rs146977492 CA265885059 |
263 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146977492 CA7329888 |
263 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA265885078 rs200838094 |
265 | E>K | No |
ClinGen Ensembl |
|
|
rs17853314 CA265885084 VAR_037902 |
267 | K>R | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
rs11538069 CA265885103 |
268 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 270 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756450670 CA7329894 |
270 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs534010283 CA265885124 |
271 | N>S | No |
ClinGen Ensembl |
|
|
CA7329895 rs780387698 |
272 | A>G | No |
ClinGen ExAC |
|
|
CA7329897 rs61737404 |
273 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7329898 rs144237088 |
274 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776541380 CA7329901 |
277 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1262544040 CA390856055 |
278 | L>I | No |
ClinGen TOPMed |
|
|
rs745632400 CA7329902 |
278 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214704377 CA390856068 |
279 | P>A | No |
ClinGen gnomAD |
|
|
CA265885185 rs1032380668 |
280 | D>E | No |
ClinGen TOPMed |
|
|
rs1247687087 CA390856096 |
281 | Q>* | No |
ClinGen gnomAD |
|
|
CA7329904 rs771868347 |
281 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769467987 CA7329903 |
281 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA390856145 rs1221217781 |
284 | M>R | No |
ClinGen TOPMed |
|
|
CA390856157 rs1322682302 |
285 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA265885192 rs1018764490 |
286 | E>V | No |
ClinGen TOPMed |
|
|
rs1161329696 CA390856196 |
287 | V>A | No |
ClinGen gnomAD |
|
|
CA390856188 rs1472427003 |
287 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201846531 CA265885204 |
288 | E>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs763525941 CA7329906 |
288 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA390856235 RCV000923987 CA7329910 rs148556633 |
290 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
|
rs939073700 CA265885258 |
290 | M>K | No |
ClinGen gnomAD |
|
|
rs767884919 CA265885236 CA7329909 |
290 | M>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA390856241 rs1190820294 |
291 | L>V | No |
ClinGen gnomAD |
|
|
CA390856292 rs1396374722 |
295 | T>N | No |
ClinGen TOPMed |
|
|
CA7329913 rs754050373 |
297 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs139747783 RCV000903325 CA7329916 |
298 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs141970001 CA7329914 |
298 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 299 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390856336 rs1267845120 |
299 | W>G | No |
ClinGen gnomAD |
|
|
CA390856334 rs1267845120 |
299 | W>R | No |
ClinGen gnomAD |
|
|
rs1485036256 CA390856360 |
301 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs757260081 CA7329917 |
301 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1262530329 COSM72597 CA390856376 |
302 | S>P | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1185890481 CA390856398 |
304 | E>* | No |
ClinGen gnomAD |
|
|
CA7329918 rs780952047 |
306 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA7329952 rs553980476 CA390857914 |
307 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs142398813 CA7329954 |
308 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765519104 CA7329953 |
308 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763100408 CA7329955 |
309 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390857959 rs763100408 |
309 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764144919 CA7329956 |
312 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1463935352 CA390858028 |
312 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs764144919 CA390858032 |
312 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1255216588 CA390859286 |
314 | P>L | No |
ClinGen TOPMed |
|
|
rs751623497 CA7329958 |
315 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7329959 rs751623497 |
315 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 315 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751623497 CA7329957 |
315 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753659799 CA7329960 |
316 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA390859379 rs777214595 |
319 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7329961 rs777214595 COSM174004 |
319 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA390859391 rs1566848631 |
320 | R>K | No |
ClinGen Ensembl |
|
|
CA7329962 rs778637464 |
321 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771744525 CA7329965 |
324 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771744525 CA7329966 |
324 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372600839 CA265888406 |
325 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs539470184 CA7329967 |
325 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7329969 COSM959238 rs777228717 |
326 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7329970 rs759959289 CA390859560 |
327 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390859563 rs759959289 |
327 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201036555 CA265888434 |
328 | L>F | No |
ClinGen gnomAD |
|
|
CA7329971 rs199725647 |
329 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200519805 CA7329972 |
333 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371483383 CA7329973 |
333 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs903904415 CA265888508 |
335 | E>K | No |
ClinGen TOPMed |
|
|
CA390859761 rs761837151 |
336 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761837151 CA7329977 |
336 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7329976 rs751678460 |
336 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 336 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7329978 rs766322708 |
338 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA390859793 rs1287198755 |
338 | T>P | No |
ClinGen gnomAD |
|
|
rs1200833734 CA390859833 |
339 | S>R | No |
ClinGen TOPMed |
|
|
rs1215229472 CA390859855 |
341 | A>D | No |
ClinGen gnomAD |
|
|
CA7329980 rs754805140 |
342 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1234984396 CA390859889 COSM3936684 |
344 | S>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1234984396 CA390859891 |
344 | S>L | No |
ClinGen TOPMed |
|
|
rs758030744 CA7329983 |
345 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA265888578 rs895149393 |
346 | I>F | No |
ClinGen Ensembl |
|
|
rs1243358692 CA390859916 |
347 | T>A | No |
ClinGen gnomAD |
|
|
rs1180740486 CA390859931 |
348 | G>W | No |
ClinGen gnomAD |
|
|
CA390859953 rs1167593319 |
349 | A>D | No |
ClinGen gnomAD |
|
|
rs1474485819 CA390859947 |
349 | A>S | No |
ClinGen gnomAD |
|
|
CA390859942 rs1474485819 |
349 | A>T | No |
ClinGen gnomAD |
|
|
rs1418946947 CA390859956 |
350 | R>G | No |
ClinGen gnomAD |
|
|
CA7329986 rs756769774 |
352 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs781766052 CA7329987 |
353 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7329989 rs770319622 |
354 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs746431322 CA7329988 |
354 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs527354355 CA7329991 |
356 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527354355 CA265888642 |
356 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390860054 rs1362088363 |
358 | V>A | No |
ClinGen TOPMed |
|
|
CA390860052 rs1470775750 |
358 | V>F | No |
ClinGen Ensembl |
|
|
rs149892304 CA7330022 |
359 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1051606880 CA265890108 |
360 | K>N | No |
ClinGen Ensembl |
|
|
rs1372678728 CA390860070 |
361 | A>T | No |
ClinGen gnomAD |
|
|
CA265890111 rs902226812 |
364 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA265890112 rs749721196 |
364 | D>V | No |
ClinGen Ensembl |
|
|
rs749931114 CA7330024 |
365 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs780434942 CA265890152 |
366 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA7330026 rs368789568 |
366 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780434942 CA7330027 |
366 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7330029 rs755470493 |
368 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754273666 CA7330028 |
368 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7330030 rs779305276 |
369 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390860121 rs779305276 |
369 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390860141 rs1199712965 |
372 | A>G | No |
ClinGen gnomAD |
|
|
CA390860138 rs1469951475 |
372 | A>P | No |
ClinGen gnomAD |
|
|
CA390860137 rs1469951475 |
372 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA390860149 rs1474392330 |
374 | A>T | No |
ClinGen gnomAD |
|
|
rs373895665 CA7330032 |
375 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA265890175 rs373895665 |
375 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390860160 rs1368532400 |
376 | T>A | No |
ClinGen TOPMed |
|
|
rs778007551 CA7330034 |
376 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390860162 rs778007551 |
376 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7330035 rs376451584 |
377 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7330036 rs370632161 |
377 | A>V | No |
ClinGen ESP ExAC |
|
|
CA7330037 rs776573223 |
378 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7330038 rs763044341 |
379 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs549484493 CA265890217 |
381 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7330040 rs549484493 |
381 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7330041 rs761656907 |
387 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1271615976 CA390860242 |
390 | R>G | No |
ClinGen gnomAD |
|
|
CA7330042 rs373206817 |
390 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1210598919 CA390860250 |
391 | T>S | No |
ClinGen gnomAD |
|
|
CA265890259 rs775249448 |
391 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 393 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760107373 CA7330044 |
394 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM959239 CA7330045 rs377262300 |
394 | R>H | endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377262300 CA390860268 |
394 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377262300 CA7330046 |
394 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390860290 rs1474809304 |
397 | R>S | No |
ClinGen gnomAD |
|
|
rs1339673581 CA390860304 |
399 | F>L | No |
ClinGen TOPMed |
|
|
rs1419679157 CA390860309 |
400 | L>P | No |
ClinGen gnomAD |
|
|
rs779354279 CA7330049 |
401 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7330048 rs755521612 |
401 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA265890289 VAR_006977 rs755521612 |
401 | M>V | associated with occlusive-cerebrovascular disease; Isehara-1 [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1382321983 CA390860318 |
402 | I>V | No |
ClinGen gnomAD |
|
|
rs951442979 CA265890313 |
403 | I>N | No |
ClinGen gnomAD |
|
|
CA390860327 rs951442979 |
403 | I>T | No |
ClinGen gnomAD |
|
|
CA265890304 rs1025770294 |
403 | I>V | No |
ClinGen TOPMed |
|
|
rs753083421 CA7330050 |
405 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA390860337 rs1469278890 |
405 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7330052 rs777867172 |
406 | T>A | No |
ClinGen ExAC |
|
|
rs747005329 CA390860343 |
406 | T>I | No |
ClinGen Ensembl |
|
|
CA265890338 rs747005329 |
406 | T>R | No |
ClinGen Ensembl |
|
|
rs10956 VAR_011742 CA265890348 |
407 | D>G | No |
ClinGen UniProt ESP TOPMed dbSNP gnomAD |
|
|
rs747326398 CA7330053 |
408 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs781385238 CA7330055 |
409 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs745909731 CA7330056 |
410 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1595100866 CA390860386 COSM1516576 |
413 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM72598 rs774521930 CA265890380 |
415 | S>R | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
RCV000019664 rs750702304 RCV000896852 |
416 | K>missing | No |
ClinVar dbSNP |
|
|
CA7330059 rs761709970 |
416 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 417 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747893413 CA7330060 |
417 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA390860426 rs1428706596 |
419 | N>H | No |
ClinGen TOPMed |
|
|
CA7330061 rs772877383 |
419 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7330064 rs776152179 |
420 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs374520742 CA7330063 |
420 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7330066 rs765747359 |
421 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA7330067 rs571810166 |
423 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7330068 rs373039062 |
423 | A>V | No |
ClinGen ExAC gnomAD |
No associated diseases with P01011
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| azurophil granule lumen | The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| blood microparticle | A phospholipid microvesicle that is derived from any of several cell types, such as platelets, blood cells, endothelial cells, or others, and contains membrane receptors as well as other proteins characteristic of the parental cell. Microparticles are heterogeneous in size, and are characterized as microvesicles free of nucleic acids. |
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| platelet alpha granule lumen | The volume enclosed by the membrane of the platelet alpha granule. |
| secretory granule lumen | The volume enclosed by the membrane of a secretory granule. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| serine-type endopeptidase inhibitor activity | Binds to and stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| acute-phase response | An acute inflammatory response that involves non-antibody proteins whose concentrations in the plasma increase in response to infection or injury of homeothermic animals. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| maintenance of gastrointestinal epithelium | Protection of epithelial surfaces of the gastrointestinal tract from proteolytic and caustic digestive agents. |
| negative regulation of endopeptidase activity | Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. |
| regulation of lipid metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. |
39 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9N2I2 | SERPINA5 | Plasma serine protease inhibitor | Bos taurus (Bovine) | PR |
| P41361 | SERPINC1 | Antithrombin-III | Bos taurus (Bovine) | PR |
| Q1JPB0 | SERPINB1 | Leukocyte elastase inhibitor | Bos taurus (Bovine) | PR |
| P13909 | SERPINE1 | Plasminogen activator inhibitor 1 | Bos taurus (Bovine) | PR |
| Q9TTE1 | SERPINA3-1 | Serpin A3-1 | Bos taurus (Bovine) | PR |
| A2I7N2 | SERPINA3-6 | Serpin A3-6 | Bos taurus (Bovine) | PR |
| A2I7M9 | SERPINA3-2 | Serpin A3-2 | Bos taurus (Bovine) | PR |
| A6QPQ2 | SERPINA3-8 | Serpin A3-8 | Bos taurus (Bovine) | PR |
| A2I7N1 | SERPINA3-5 | Serpin A3-5 | Bos taurus (Bovine) | PR |
| O73790 | SERPINB10 | Heterochromatin-associated protein MENT | Gallus gallus (Chicken) | PR |
| P01011 | SERPINA3 | Alpha-1-antichymotrypsin | Homo sapiens (Human) | PR |
| P01008 | SERPINC1 | Antithrombin-III | Homo sapiens (Human) | PR |
| P05121 | SERPINE1 | Plasminogen activator inhibitor 1 | Homo sapiens (Human) | PR |
| P08697 | SERPINF2 | Alpha-2-antiplasmin | Homo sapiens (Human) | PR |
| P05155 | SERPING1 | Plasma protease C1 inhibitor | Homo sapiens (Human) | PR |
| Q86WD7 | SERPINA9 | Serpin A9 | Homo sapiens (Human) | PR |
| P07093 | SERPINE2 | Glia-derived nexin | Homo sapiens (Human) | PR |
| Q9UK55 | SERPINA10 | Protein Z-dependent protease inhibitor | Homo sapiens (Human) | PR |
| Q96P15 | SERPINB11 | Serpin B11 | Homo sapiens (Human) | PR |
| Q5SV42 | Serpinb1c | Leukocyte elastase inhibitor C | Mus musculus (Mouse) | PR |
| Q07235 | Serpine2 | Glia-derived nexin | Mus musculus (Mouse) | PR |
| Q8CDC0 | Serpinb13 | Serpin B13 | Mus musculus (Mouse) | PR |
| P22777 | Serpine1 | Plasminogen activator inhibitor 1 | Mus musculus (Mouse) | PR |
| Q9JK88 | Serpini2 | Serpin I2 | Mus musculus (Mouse) | PR |
| P12388 | Serpinb2 | Plasminogen activator inhibitor 2, macrophage | Mus musculus (Mouse) | PR |
| P32261 | Serpinc1 | Antithrombin-III | Mus musculus (Mouse) | PR |
| Q9D154 | Serpinb1a | Leukocyte elastase inhibitor A | Mus musculus (Mouse) | PR |
| Q8BYY9 | Serpina3b | Serine protease inhibitor A3B | Mus musculus (Mouse) | PR |
| Q80X76 | Serpina3f | Serine protease inhibitor A3F | Mus musculus (Mouse) | PR |
| Q5I2A0 | Serpina3g | Serine protease inhibitor A3G | Mus musculus (Mouse) | PR |
| P29524 | Serpinb2 | Plasminogen activator inhibitor 2 type A | Rattus norvegicus (Rat) | PR |
| Q6P734 | Serping1 | Plasma protease C1 inhibitor | Rattus norvegicus (Rat) | PR |
| P07092 | Serpine2 | Glia-derived nexin | Rattus norvegicus (Rat) | PR |
| Q62975 | Serpina10 | Protein Z-dependent protease inhibitor | Rattus norvegicus (Rat) | PR |
| P05545 | Serpina3k | Serine protease inhibitor A3K | Rattus norvegicus (Rat) | PR |
| P05544 | Serpina3l | Serine protease inhibitor A3L | Rattus norvegicus (Rat) | PR |
| Q9ZQR6 | At2g14540 | Serpin-Z2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M1T7 | At3g45220 | Serpin-Z4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O48706 | At2g26390 | Serpin-Z3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MERMLPLLAL | GLLAAGFCPA | VLCHPNSPLD | EENLTQENQD | RGTHVDLGLA | SANVDFAFSL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YKQLVLKAPD | KNVIFSPLSI | STALAFLSLG | AHNTTLTEIL | KGLKFNLTET | SEAEIHQSFQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HLLRTLNQSS | DELQLSMGNA | MFVKEQLSLL | DRFTEDAKRL | YGSEAFATDF | QDSAAAKKLI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NDYVKNGTRG | KITDLIKDLD | SQTMMVLVNY | IFFKAKWEMP | FDPQDTHQSR | FYLSKKKWVM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VPMMSLHHLT | IPYFRDEELS | CTVVELKYTG | NASALFILPD | QDKMEEVEAM | LLPETLKRWR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DSLEFREIGE | LYLPKFSISR | DYNLNDILLQ | LGIEEAFTSK | ADLSGITGAR | NLAVSQVVHK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AVLDVFEEGT | EASAATAVKI | TLLSALVETR | TIVRFNRPFL | MIIVPTDTQN | IFFMSKVTNP |
| KQA |