Q86WD7
Gene name |
SERPINA9 (GCET1, SERPINA11, UNQ692/PRO1337) |
Protein name |
Serpin A9 |
Names |
Centerin, Germinal center B-cell-expressed transcript 1 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:327657 |
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
1 structures for Q86WD7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86WD7-F1 | Predicted | AlphaFoldDB |
426 variants for Q86WD7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA390871492 rs1264137829 |
2 | A>S | No |
ClinGen gnomAD |
|
|
CA7328317 rs751166625 |
7 | G>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 9 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763654723 CA7328316 |
9 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 11 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358676894 CA390871426 |
11 | A>D | No |
ClinGen TOPMed |
|
|
rs758144555 CA7328315 |
13 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390871413 rs1336000153 |
14 | L>I | No |
ClinGen gnomAD |
|
|
rs1330400042 CA390871406 |
15 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs532050549 CA7328313 |
15 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs570822602 CA7328311 |
16 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7328312 rs759442392 |
16 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs570822602 CA390871398 |
16 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs937082940 CA265905430 |
17 | P>L | No |
ClinGen TOPMed |
|
|
rs1595669184 CA390871388 |
18 | I>T | No |
ClinGen Ensembl |
|
|
rs760573855 CA7328309 |
18 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs368995727 CA7328308 |
19 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229320584 CA390871373 |
20 | C>Y | No |
ClinGen gnomAD |
|
|
CA265905390 rs888124641 |
22 | S>T | No |
ClinGen TOPMed |
|
|
CA7328304 rs45438398 |
23 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775715515 CA7328305 |
23 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390871355 rs1310987010 |
24 | A>T | No |
ClinGen gnomAD |
|
|
CA7328302 rs4905204 VAR_047344 |
24 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs201652235 CA7328301 |
25 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7328300 rs747466486 |
26 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs911032142 CA265905346 |
27 | P>S | No |
ClinGen TOPMed |
|
|
rs1337187253 CA390871325 |
29 | A>S | No |
ClinGen gnomAD |
|
|
rs777431283 CA7328298 |
30 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1402106800 CA390871315 |
30 | Y>C | No |
ClinGen gnomAD |
|
|
CA390871314 rs1402106800 |
30 | Y>S | No |
ClinGen gnomAD |
|
|
CA7328297 COSM288247 rs370139069 |
32 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3670172 rs572746802 CA7328295 |
32 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
rs370139069 CA7328296 |
32 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390871299 rs1410330929 |
33 | P>R | No |
ClinGen gnomAD |
|
|
CA7328291 rs766049389 |
36 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 38 | S>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7328289 rs372542319 |
38 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390871272 rs1237412506 |
38 | S>R | No |
ClinGen gnomAD |
|
|
rs45438596 CA7328288 |
39 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390871265 rs1595669030 |
39 | T>P | No |
ClinGen Ensembl |
|
|
rs1595669012 CA390871258 |
40 | P>H | No |
ClinGen Ensembl |
|
|
rs865864584 CA265905258 |
40 | P>S | No |
ClinGen TOPMed |
|
|
CA265905251 rs865864584 COSM1371820 |
40 | P>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs763090252 CA390871255 |
41 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs763090252 CA7328287 |
41 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs199717292 CA7328286 |
41 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390871247 rs1350696105 |
42 | S>L | No |
ClinGen TOPMed |
|
|
rs1315244213 CA390871252 |
42 | S>T | No |
ClinGen gnomAD |
|
|
COSM1516174 rs1376792694 CA390871239 |
43 | Q>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7328284 rs746051150 |
44 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899526373 CA265905234 |
45 | Y>C | No |
ClinGen Ensembl |
|
|
CA7328283 rs777073491 |
46 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390871221 rs1419116689 |
47 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs200602156 CA390871209 |
48 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747519683 CA7328280 |
49 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs747519683 CA390871203 |
49 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7328277 rs544061591 |
50 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390871201 rs544061591 |
50 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7328276 rs371625465 |
52 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758602903 CA7328275 |
52 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7328274 rs201522333 |
54 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190620890 CA7328273 |
54 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755841892 CA7328272 |
57 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7328271 rs199573923 |
57 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199573923 COSM315089 CA390871156 |
57 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1342315242 CA390871153 |
58 | R>G | No |
ClinGen gnomAD |
|
|
rs1399480601 CA390871131 |
61 | L>W | No |
ClinGen gnomAD |
|
|
CA390871118 rs1047330150 |
63 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1047330150 CA265905071 |
63 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7328269 rs761718690 |
63 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs572837692 CA7328268 |
64 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs59773088 CA7328266 |
65 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7328265 rs771270945 |
65 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390871108 rs1411948308 |
65 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs771270945 CA7328264 |
65 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338128016 CA390871094 |
67 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390871089 rs761176457 |
68 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390871086 rs1193660500 |
68 | I>S | No |
ClinGen gnomAD |
|
|
rs761176457 CA7328263 |
68 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575042815 CA7328261 |
69 | F>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs748563339 CA390871082 |
69 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA7328260 rs748563339 |
69 | F>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 70 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566793741 CA390871067 |
71 | S>C | No |
ClinGen Ensembl |
|
|
rs1566793741 CA390871065 |
71 | S>F | No |
ClinGen Ensembl |
|
|
rs915932148 CA265905027 |
75 | V>A | No |
ClinGen Ensembl |
|
|
rs748977210 CA390871043 |
75 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748977210 CA7328256 |
75 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 76 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755752926 CA390871034 |
77 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7328255 rs755752926 |
77 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755752926 CA7328254 |
77 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757220526 CA7328251 |
80 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs990378863 CA265904946 |
80 | A>V | No |
ClinGen gnomAD |
|
|
CA390870995 rs1389225097 |
83 | S>C | No |
ClinGen TOPMed |
|
|
CA390870994 rs751390983 |
84 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA7328249 rs751390983 |
84 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs917893516 CA265904910 |
85 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs917893516 CA390870986 |
85 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1170382945 CA390870982 |
86 | A>T | No |
ClinGen gnomAD |
|
|
rs1295712019 CA390870979 |
86 | A>V | No |
ClinGen TOPMed |
|
|
rs753937955 CA7328245 |
87 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759598527 CA7328246 |
87 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760946865 CA7328243 |
88 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7328244 COSM3706452 rs142619133 |
88 | S>P | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs760492022 CA7328241 |
89 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034288024 CA265904902 |
90 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs201925577 CA7328240 |
91 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs12879019 CA7328238 |
93 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs12879019 CA7328237 |
93 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs12879019 CA265904879 |
93 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7328236 rs774962208 |
93 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488031288 CA390870936 |
94 | I>S | No |
ClinGen TOPMed |
|
|
rs374230953 CA265904847 |
97 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs769479968 CA7328235 |
97 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 99 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242649739 CA390870889 |
102 | L>V | No |
ClinGen gnomAD |
|
|
rs1196518184 CA390870882 |
103 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7328233 rs780991821 |
103 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290022735 CA390870874 |
104 | H>L | No |
ClinGen TOPMed |
|
|
rs1455779027 CA390870878 |
104 | H>N | No |
ClinGen TOPMed |
|
|
CA390870872 rs1359337963 |
104 | H>Q | No |
ClinGen TOPMed |
|
|
CA390870869 rs1331135306 |
105 | T>A | No |
ClinGen gnomAD |
|
| rs1453770363 | 106 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273588906 CA390870857 |
107 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA390870844 rs1232243496 |
109 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs371331582 CA7328232 |
109 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377551906 CA265904818 |
110 | I>T | No |
ClinGen ESP |
|
|
rs139400221 CA7328231 |
111 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758331597 CA7328229 |
112 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs370684428 CA7328228 |
112 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1378051469 CA390870817 |
113 | G>A | No |
ClinGen gnomAD |
|
|
CA390870820 rs1442346237 |
113 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390870798 rs1258008953 |
116 | H>N | No |
ClinGen gnomAD |
|
|
rs1258008953 CA390870796 |
116 | H>Y | No |
ClinGen gnomAD |
|
|
rs768000133 CA7328224 |
119 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1008169641 CA265904761 |
122 | T>S | No |
ClinGen TOPMed |
|
|
CA7328222 rs377345508 |
123 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1218832763 CA390870756 |
123 | V>I | No |
ClinGen gnomAD |
|
|
CA390870755 rs1218832763 |
123 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs35347445 CA7328221 |
124 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201146824 CA7328220 |
125 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7328219 rs202245237 |
126 | K>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs202245237 CA7328218 |
126 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA390870733 rs1311006106 |
127 | D>H | No |
ClinGen gnomAD |
|
|
CA7328216 rs776328898 |
129 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 130 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770601864 CA7328215 |
131 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1380235478 CA390870695 |
132 | M>I | No |
ClinGen TOPMed |
|
|
rs1420929304 CA390870690 |
133 | G>* | No |
ClinGen gnomAD |
|
|
CA265904715 rs866767080 |
133 | G>E | No |
ClinGen Ensembl |
|
|
CA390870687 rs1358239157 |
134 | S>C | No |
ClinGen gnomAD |
|
|
rs746825992 CA7328214 |
136 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs777591835 CA7328213 |
136 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs746825992 CA265904712 |
136 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs562308083 CA390870664 |
137 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7328211 rs768342050 |
138 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs61740030 CA7328210 |
139 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA7328208 rs756197220 |
139 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs201258446 CA265904678 |
145 | Q>* | No |
ClinGen Ensembl |
|
|
CA7328205 rs767692246 |
145 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1375239336 CA390870590 |
148 | F>L | No |
ClinGen TOPMed |
|
|
CA390870584 rs1223572546 |
149 | L>F | No |
ClinGen gnomAD |
|
|
rs751912997 CA7328203 |
149 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764481682 CA7328202 |
150 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7328201 rs763478766 |
151 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA390870571 rs1566793282 |
152 | V>I | No |
ClinGen Ensembl |
|
|
rs775921571 CA7328200 |
153 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs369836270 CA7328199 |
154 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390870558 rs369836270 |
154 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA265904649 rs992103421 |
156 | Y>C | No |
ClinGen TOPMed |
|
|
CA390870522 rs1280579591 |
159 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 160 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7328198 rs759100489 |
160 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 162 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs959655925 CA265904635 |
163 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA390870495 rs1209667326 |
163 | T>I | No |
ClinGen TOPMed |
|
|
CA390870490 rs1405637571 |
164 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs748943432 CA265904619 |
166 | S>F | No |
ClinGen Ensembl |
|
|
CA390870459 rs1176631530 |
169 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595668215 CA390870449 |
170 | I>T | No |
ClinGen Ensembl |
|
|
CA7328191 rs771840753 |
171 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7328189 rs373122783 |
173 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7328190 rs748100074 |
173 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1225277 rs373122783 CA7328188 |
173 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390870425 rs1199629879 |
174 | R>S | No |
ClinGen gnomAD |
|
|
rs1453567568 CA390870419 |
175 | I>N | No |
ClinGen gnomAD |
|
|
CA7328184 rs751760583 |
177 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7328183 rs572845318 |
178 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753044188 CA7328181 |
179 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs765779875 CA7328180 |
180 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs753317420 CA7328178 |
181 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7328177 rs371514591 |
183 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390870363 rs371514591 |
183 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78283108 CA7328176 |
184 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772853992 CA7328175 |
186 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA390870338 rs1368395979 |
187 | V>A | No |
ClinGen TOPMed |
|
|
rs761759032 CA7328172 |
189 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7328170 rs768756104 |
193 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs749200217 CA7328169 |
194 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA390870286 rs1458366826 |
195 | D>G | No |
ClinGen gnomAD |
|
|
CA390870280 rs1240458729 |
196 | L>F | No |
ClinGen gnomAD |
|
|
rs1457730804 COSM1516178 CA390870273 |
197 | L>P | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7328167 rs575429531 |
198 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390870264 rs1346592749 |
199 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1346592749 CA390870266 COSM1371813 |
199 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA390870249 rs1456752502 |
201 | V>F | No |
ClinGen TOPMed |
|
|
CA390870248 rs1216079990 |
201 | V>G | No |
ClinGen TOPMed |
|
|
CA390870244 rs1247869519 |
202 | L>V | No |
ClinGen TOPMed |
|
|
rs1377137276 CA390870215 |
205 | H>P | No |
ClinGen gnomAD |
|
|
CA265904464 rs963782904 |
205 | H>Y | No |
ClinGen Ensembl |
|
|
CA390870196 rs1333154966 |
206 | I>T | No |
ClinGen gnomAD |
|
|
COSM959183 rs1421153546 CA390870179 |
207 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 210 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390870151 rs1401512477 |
210 | A>P | No |
ClinGen gnomAD |
|
|
CA390870150 rs1401512477 |
210 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 211 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390869215 rs1214065256 |
211 | K>N | No |
ClinGen gnomAD |
|
|
rs143253931 CA7328134 |
212 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs189300483 CA7328133 |
212 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143253931 CA7328135 |
212 | W>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775122463 CA7328132 |
213 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759349102 CA7328130 |
217 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA390869109 rs1400529842 |
217 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs17090921 CA7328129 VAR_047345 |
218 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs17090921 CA390869096 |
218 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1353940315 CA390869092 |
219 | E>K | No |
ClinGen TOPMed |
|
|
rs185539688 CA7328126 |
220 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs185539688 CA7328127 |
220 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7328128 rs772080455 |
220 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA390869058 rs749711646 |
221 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7328123 rs780251195 |
221 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA7328124 rs749711646 |
221 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA390869004 rs1281746086 |
224 | N>S | No |
ClinGen TOPMed |
|
|
CA390868938 rs1190826843 |
228 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390868923 rs1246870922 |
229 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA265902869 rs956228346 |
230 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA390868916 rs1223503981 |
230 | G>S | No |
ClinGen gnomAD |
|
|
CA7328118 rs370550742 |
231 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1276415036 CA390868890 |
232 | Q>K | No |
ClinGen gnomAD |
|
|
rs376958235 CA7328117 |
233 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764890158 CA7328115 |
235 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7328114 rs764890158 |
235 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs867024120 CA390868816 |
236 | H>N | No |
ClinGen gnomAD |
|
|
CA390868806 rs1265046241 |
236 | H>P | No |
ClinGen TOPMed |
|
|
rs28583900 VAR_047346 CA7328113 |
236 | H>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs867024120 CA265902839 |
236 | H>Y | No |
ClinGen gnomAD |
|
|
CA265902830 rs1011917518 |
237 | V>A | No |
ClinGen TOPMed |
|
|
CA7328112 rs753706799 |
238 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390868781 rs753706799 |
238 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390868747 rs1167935139 |
240 | M>I | No |
ClinGen gnomAD |
|
|
rs1566791816 CA390868702 |
243 | K>Q | No |
ClinGen Ensembl |
|
|
CA390868693 rs1425250069 |
243 | K>R | No |
ClinGen gnomAD |
|
|
CA7328110 rs761939141 |
244 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539102578 CA265902816 |
244 | E>D | No |
ClinGen 1000Genomes |
|
|
rs1192624890 CA390868683 |
244 | E>Q | No |
ClinGen gnomAD |
|
|
CA7328108 rs376153788 |
245 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7328109 rs774392469 |
245 | Q>P | No |
ClinGen ExAC |
|
|
rs774392469 CA390868659 |
245 | Q>R | No |
ClinGen ExAC |
|
|
CA7328106 rs200406674 |
246 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390868649 rs1198992845 |
246 | F>L | No |
ClinGen gnomAD |
|
|
rs61761875 CA7328105 |
247 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7328104 rs61761875 |
247 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7328103 rs781778233 |
247 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA390868606 rs1312909677 |
249 | G>R | No |
ClinGen gnomAD |
|
|
CA390868582 rs1362775364 |
251 | D>N | No |
ClinGen TOPMed |
|
|
CA390868559 rs1217735838 |
252 | T>A | No |
ClinGen gnomAD |
|
|
rs1370479292 CA390868547 |
253 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs193117791 CA7328101 |
254 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771379037 CA265902762 |
255 | N>S | No |
ClinGen Ensembl |
|
|
rs758103039 CA7328099 |
256 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7328100 rs777372316 |
256 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA390868491 rs1466990817 |
257 | F>S | No |
ClinGen gnomAD |
|
|
CA7328096 rs754788111 |
258 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1315112422 CA390868456 |
260 | Q>* | No |
ClinGen TOPMed |
|
|
CA7328095 rs753626112 |
260 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs761120358 CA265902734 |
261 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1358181806 CA390868445 |
261 | M>L | No |
ClinGen TOPMed |
|
|
CA390868441 rs1358181806 |
261 | M>V | No |
ClinGen TOPMed |
|
|
rs1287732141 CA390868390 |
263 | Y>* | No |
ClinGen TOPMed |
|
|
CA390868359 rs1441242975 |
265 | G>A | No |
ClinGen gnomAD |
|
|
CA7328094 rs766343410 |
265 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7328093 rs368986283 |
266 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372621576 CA7328091 |
268 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1208056037 CA390868293 |
269 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775515416 CA7328089 |
270 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs775515416 CA390868288 |
270 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs770041574 CA7328088 |
272 | V>D | No |
ClinGen ExAC TOPMed |
|
|
CA7328086 rs777118123 |
274 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7328085 rs771591706 |
277 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA390868177 rs1310982694 |
277 | G>S | No |
ClinGen gnomAD |
|
|
rs747482522 CA7328084 |
278 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs771427322 CA390868134 CA7328082 |
279 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7328083 rs777343698 |
279 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747682822 CA7328081 |
280 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1158942785 CA390868118 |
281 | Q>* | No |
ClinGen gnomAD |
|
|
CA390868098 rs1421119943 |
282 | L>R | No |
ClinGen gnomAD |
|
|
rs778497863 CA7328080 |
283 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA390868095 rs778497863 |
283 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs975200178 CA265902661 |
284 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7328079 rs561114629 |
285 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs561114629 CA390868067 |
285 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390868059 rs1258111947 |
285 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA390868044 rs1263985620 |
286 | L>F | No |
ClinGen gnomAD |
|
|
rs549191408 CA7328077 |
286 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA265902658 rs968763111 |
287 | S>L | No |
ClinGen TOPMed |
|
|
CA390868012 rs1340092516 |
289 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
VAR_047347 CA7328075 rs28618118 |
292 | R>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1245918350 CA390867964 |
293 | K>R | No |
ClinGen gnomAD |
|
|
CA390867942 rs758462587 TCGA novel rs1566791478 CA7328073 |
294 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD Ensembl |
|
rs764246290 CA7328074 |
294 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA390867934 rs752814721 |
295 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7328072 rs752814721 |
295 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390867917 rs1354334232 |
296 | H>R | No |
ClinGen gnomAD |
|
|
rs1401497567 CA390867892 |
298 | L>H | No |
ClinGen gnomAD |
|
|
rs777171061 CA7328069 |
299 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA390867851 rs368040594 |
301 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368040594 CA7328068 |
301 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390867855 rs1566791436 |
301 | R>W | No |
ClinGen Ensembl |
|
|
rs866545816 CA265900736 |
302 | W>* | No |
ClinGen gnomAD |
|
|
rs766696907 CA7328051 |
303 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA265900733 rs748803342 |
304 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767958462 CA7328048 |
306 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257263764 CA390867038 |
306 | F>V | No |
ClinGen TOPMed |
|
|
rs1199592839 CA390867021 |
307 | I>V | No |
ClinGen TOPMed |
|
|
CA7328047 rs762331920 |
309 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs768085902 CA7328045 |
311 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7328046 rs773764334 |
311 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA7328044 rs748951147 |
314 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1173195876 CA390866910 |
315 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 315 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390866887 rs1483943489 |
316 | Y>C | No |
ClinGen TOPMed |
|
|
CA7328043 rs775178790 |
317 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7328042 COSM315091 rs769429068 |
317 | N>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs745686158 CA7328041 |
318 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs779150873 CA7328037 |
322 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs76159860 CA7328035 |
323 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs76159860 CA265900655 |
323 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs983686317 COSM1516184 CA265900644 |
325 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA390866744 rs1349611465 |
325 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7328033 rs756338732 |
326 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7328031 rs767884108 |
328 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA390866708 rs767884108 |
328 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA7328030 VAR_047348 rs11628722 |
330 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs752046245 CA7328029 |
331 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA390866598 rs762514287 |
334 | N>K | No |
ClinGen ExAC TOPMed |
|
|
rs764570314 CA7328028 |
334 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1390177721 CA390866590 |
335 | A>T | No |
ClinGen TOPMed |
|
|
CA7328026 rs774947676 |
336 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA7328023 rs776298818 |
341 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs770704186 CA265900555 |
343 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770704186 CA7328022 |
343 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777925704 CA7328020 |
346 | L>P | No |
ClinGen ExAC |
|
|
rs558575103 CA7328021 |
346 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390866415 rs1254757104 |
347 | Q>H | No |
ClinGen gnomAD |
|
|
rs77274019 CA7328017 |
348 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs77274019 CA7328016 |
348 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390866410 rs77274019 |
348 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA265900530 rs376738089 |
349 | S>C | No |
ClinGen ESP gnomAD |
|
|
rs200842178 CA7328014 |
350 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1430262318 CA390865963 |
351 | A>T | No |
ClinGen gnomAD |
|
|
CA7327994 rs757386494 |
352 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390865945 rs757386494 |
352 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166135543 CA390865934 |
353 | H>Y | No |
ClinGen TOPMed |
|
|
rs546582038 CA265899076 |
355 | A>G | No |
ClinGen 1000Genomes |
|
|
rs1163591248 CA390865901 |
355 | A>P | No |
ClinGen gnomAD |
|
|
CA7327992 rs747419955 |
359 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs762872752 CA265899065 |
360 | S>R | No |
ClinGen Ensembl |
|
|
rs868625320 CA265899064 |
361 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 362 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265899058 rs528042651 |
363 | G>V | No |
ClinGen 1000Genomes |
|
|
CA7327990 rs758930818 |
365 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390865798 rs1215285617 |
366 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 366 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595661497 CA390865793 |
367 | T>P | No |
ClinGen Ensembl |
|
|
CA7327989 rs753148839 |
368 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1385309859 CA390865759 |
372 | T>I | No |
ClinGen TOPMed |
|
|
rs1320685935 CA390865757 |
373 | K>E | No |
ClinGen TOPMed |
|
|
rs765652572 CA390865743 |
374 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1488911335 CA390865746 |
374 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA265899015 rs200611583 |
375 | I>T | No |
ClinGen TOPMed |
|
|
CA390865729 rs1199184319 |
377 | R>* | No |
ClinGen gnomAD |
|
|
CA7327987 rs199738408 |
377 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7327986 rs370040760 |
378 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293492269 CA390865725 |
378 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1293492269 CA390865726 |
378 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7327984 rs760354488 |
380 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1306111241 CA390865712 |
380 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7327983 rs773172843 |
381 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA7327981 rs761855155 |
382 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390865689 rs1355818470 |
384 | Y>N | No |
ClinGen gnomAD |
|
|
rs373779363 CA7327980 |
385 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7327978 rs745996886 |
389 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs200415975 CA265898928 |
390 | N>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA390865647 rs1566788950 |
390 | N>S | No |
ClinGen Ensembl |
|
|
rs200415975 CA390865648 |
390 | N>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1259466119 CA390865642 |
391 | R>G | No |
ClinGen TOPMed |
|
|
CA7327977 rs776548862 |
391 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA265898911 rs1017990188 |
393 | F>L | No |
ClinGen TOPMed |
|
|
CA390865611 rs1481557321 |
395 | M>I | No |
ClinGen gnomAD |
|
|
CA7327976 COSM72600 rs769630965 |
396 | M>I | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs563120500 CA7327975 |
397 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563120500 CA265898879 |
397 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA265898869 rs78420865 |
398 | T>K | No |
ClinGen Ensembl |
|
|
rs758824369 CA7327973 |
399 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544445563 CA7327972 |
401 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779518053 CA7327971 |
402 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390865556 rs1296752288 |
404 | G>D | No |
ClinGen TOPMed |
|
|
rs371198029 CA7327969 |
404 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs183027056 CA7327968 |
405 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750037689 CA7327966 |
408 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390865531 rs1338243754 |
408 | L>P | No |
ClinGen TOPMed |
|
|
CA265898802 rs368647334 |
409 | G>E | No |
ClinGen ESP |
|
|
rs761765070 CA7327964 |
410 | K>* | No |
ClinGen ExAC |
|
| TCGA novel | 410 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7327962 rs773985074 |
411 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs764138245 CA7327961 |
412 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs776799295 CA7327959 |
414 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7327960 rs201515358 |
414 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7327958 rs371000087 |
415 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390865487 rs1349528009 |
416 | K>E | No |
ClinGen TOPMed |
|
|
CA7327957 rs377392216 |
416 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374213651 CA265898784 |
417 | S>F | No |
ClinGen ESP TOPMed gnomAD |
No associated diseases with Q86WD7
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of endopeptidase activity | Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. |
35 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 |
| A6QPQ2 | SERPINA3-8 | Serpin A3-8 | Bos taurus (Bovine) | PR |
| A2I7N1 | SERPINA3-5 | Serpin A3-5 | 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 |
| O73790 | SERPINB10 | Heterochromatin-associated protein MENT | Gallus gallus (Chicken) | 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 |
| P01011 | SERPINA3 | Alpha-1-antichymotrypsin | 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 |
| Q5I2A0 | Serpina3g | Serine protease inhibitor A3G | 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 |
| P29524 | Serpinb2 | Plasminogen activator inhibitor 2 type A | Rattus norvegicus (Rat) | PR |
| Q6P734 | Serping1 | Plasma protease C1 inhibitor | Rattus norvegicus (Rat) | PR |
| P05545 | Serpina3k | Serine protease inhibitor A3K | Rattus norvegicus (Rat) | PR |
| P07092 | Serpine2 | Glia-derived nexin | Rattus norvegicus (Rat) | PR |
| Q62975 | Serpina10 | Protein Z-dependent protease inhibitor | 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 |
| MASYLYGVLF | AVGLCAPIYC | VSPANAPSAY | PRPSSTKSTP | ASQVYSLNTD | FAFRLYRRLV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LETPSQNIFF | SPVSVSTSLA | MLSLGAHSVT | KTQILQGLGF | NLTHTPESAI | HQGFQHLVHS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LTVPSKDLTL | KMGSALFVKK | ELQLQANFLG | NVKRLYEAEV | FSTDFSNPSI | AQARINSHVK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KKTQGKVVDI | IQGLDLLTAM | VLVNHIFFKA | KWEKPFHPEY | TRKNFPFLVG | EQVTVHVPMM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HQKEQFAFGV | DTELNCFVLQ | MDYKGDAVAF | FVLPSKGKMR | QLEQALSART | LRKWSHSLQK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RWIEVFIPRF | SISASYNLET | ILPKMGIQNV | FDKNADFSGI | AKRDSLQVSK | ATHKAVLDVS |
| 370 | 380 | 390 | 400 | 410 | |
| EEGTEATAAT | TTKFIVRSKD | GPSYFTVSFN | RTFLMMITNK | ATDGILFLGK | VENPTKS |