Q9BYG8
Gene name |
GSDMC |
Protein name |
Gasdermin-C |
Names |
Melanoma-derived leucine zipper-containing extranuclear factor |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56169 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
4-240 (N-terminal gasdermin domain) |
Relief mechanism |
Cleavage |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

1 structures for Q9BYG8
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9BYG8-F1 | Predicted | AlphaFoldDB |
471 variants for Q9BYG8
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs762258169 CA4876221 |
2 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1266534046 CA372187782 |
2 | P>R | No |
ClinGen TOPMed |
|
CA4876222 rs762258169 |
2 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1195131557 CA372187773 |
3 | S>A | No |
ClinGen TOPMed |
|
CA185370298 rs1013729334 |
4 | M>I | No |
ClinGen TOPMed gnomAD |
|
rs115551816 CA4876220 |
4 | M>L | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
rs149535689 CA4876218 |
4 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs115551816 CA4876219 |
4 | M>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
rs775958161 CA372187750 |
5 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775958161 CA4876217 |
5 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769905738 CA372187729 |
6 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA185370265 rs769905738 |
6 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769905738 CA4876216 |
6 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1096071 rs369692449 CA4876215 |
7 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs369692449 CA372187711 |
7 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4876214 rs771002121 COSM1096070 |
7 | R>H | central_nervous_system endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs771002121 CA4876213 |
7 | R>P | No |
ClinGen ExAC gnomAD |
|
CA372187713 rs369692449 |
7 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1386919911 CA372187690 |
8 | I>N | No |
ClinGen gnomAD |
|
rs1183981323 CA372187614 |
13 | V>L | No |
ClinGen gnomAD |
|
CA185370227 rs138109016 |
14 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
rs138109016 CA372187600 |
14 | K>Q | No |
ClinGen ESP TOPMed gnomAD |
|
CA4876212 rs200714543 |
15 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA372187588 rs1382803314 |
15 | E>K | No |
ClinGen gnomAD |
|
rs771977895 CA4876210 |
16 | I>T | No |
ClinGen ExAC gnomAD |
|
rs777495083 CA4876211 |
16 | I>V | No |
ClinGen ExAC gnomAD |
|
CA372187545 rs1361846237 |
18 | S>G | No |
ClinGen TOPMed gnomAD |
|
CA185370200 rs753588428 |
18 | S>N | No |
ClinGen Ensembl |
|
rs765627400 CA4876208 |
21 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368043349 CA4876206 |
23 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
rs10090835 VAR_028138 CA4876207 |
23 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs10090835 CA372187483 |
23 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1392449481 CA372187474 |
24 | V>L | No |
ClinGen gnomAD |
|
CA372187458 rs1386166468 |
25 | K>R | No |
ClinGen gnomAD |
|
rs568650364 CA4876205 |
26 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA4876203 rs750079168 |
28 | L>F | No |
ClinGen ExAC gnomAD |
|
CA372187417 rs1407386905 |
28 | L>S | No |
ClinGen gnomAD |
|
CA4876202 rs764494837 |
29 | S>N | No |
ClinGen ExAC gnomAD |
|
CA4876201 rs138288375 |
30 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4876200 rs753238485 |
31 | T>I | No |
ClinGen ExAC gnomAD |
|
CA4876199 rs371192399 |
33 | L>S | No |
ClinGen ESP ExAC gnomAD |
|
COSM1736347 rs550446533 CA4876197 |
34 | R>C | central_nervous_system breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs550446533 CA4876198 |
34 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM604170 CA185370051 rs910419404 |
34 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA372187328 rs1175572380 |
35 | Q>P | No |
ClinGen gnomAD |
|
CA372187313 rs1218238517 |
36 | F>L | No |
ClinGen TOPMed |
|
rs760862584 CA4876195 |
36 | F>L | No |
ClinGen ExAC gnomAD |
|
rs1221995002 CA372187296 |
37 | V>I | No |
ClinGen gnomAD |
|
CA372187279 rs1563813538 |
38 | I>T | No |
ClinGen Ensembl |
|
CA4876194 rs772031336 |
39 | L>V | No |
ClinGen ExAC TOPMed |
|
COSM1643503 CA4876192 rs112465762 |
40 | R>* | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs754298748 CA4876191 COSM1096069 |
40 | R>Q | kidney endometrium skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs200005605 CA4876189 |
42 | K>R | No |
ClinGen ExAC gnomAD |
|
CA4876188 rs200005605 |
42 | K>T | No |
ClinGen ExAC gnomAD |
|
CA4876187 rs755630735 |
43 | K>R | No |
ClinGen ExAC gnomAD |
|
rs750087595 CA4876185 |
44 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1490410688 CA372187179 |
45 | S>T | No |
ClinGen gnomAD |
|
rs1303435675 CA372187171 |
45 | S>Y | No |
ClinGen gnomAD |
|
CA4876184 rs140640562 |
46 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4876182 rs115362838 |
46 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4876183 rs115362838 |
46 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs765739292 CA4876181 COSM3834048 |
48 | S>L | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA4876179 rs760029934 |
51 | E>G | No |
ClinGen ExAC gnomAD |
|
rs754354297 CA4876178 |
52 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA4876175 rs760776030 |
53 | S>C | No |
ClinGen ExAC gnomAD |
|
CA4876177 rs368643866 |
53 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
CA4876173 rs143364779 |
54 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4876171 rs773117841 |
54 | D>E | No |
ClinGen ExAC gnomAD |
|
rs143364779 CA4876172 |
54 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs35919954 CA4876174 RCV000889701 |
54 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4876170 rs768564093 |
55 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs961715187 CA185369764 |
57 | P>L | No |
ClinGen Ensembl |
|
CA372186998 rs749235759 |
59 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372187004 rs1380081667 |
59 | E>K | No |
ClinGen TOPMed |
|
CA4876169 rs749235759 |
59 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1242192052 CA372186977 |
60 | F>L | No |
ClinGen TOPMed |
|
CA372186981 rs1319926826 |
60 | F>Y | No |
ClinGen TOPMed |
|
rs1272397471 CA372186969 |
61 | S>P | No |
ClinGen TOPMed gnomAD |
|
rs149214871 CA4876168 |
62 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs115142760 CA372186940 |
63 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4876167 rs115142760 |
63 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1325125520 CA372186866 |
68 | P>L | No |
ClinGen gnomAD |
|
rs1181698984 CA372186873 |
68 | P>T | No |
ClinGen TOPMed |
|
rs1442125447 CA372186853 |
69 | S>N | No |
ClinGen TOPMed |
|
CA372186822 rs559980444 |
73 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs745375697 CA4876144 |
74 | E>D | No |
ClinGen ExAC gnomAD |
|
CA4876145 rs769715058 |
74 | E>G | No |
ClinGen ExAC |
|
CA4876143 rs776192121 |
76 | V>I | No |
ClinGen ExAC gnomAD |
|
rs542215717 CA4876142 |
80 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA372186369 rs1375926726 |
80 | P>S | No |
ClinGen gnomAD |
|
rs1200333992 CA372186354 |
81 | F>S | No |
ClinGen gnomAD |
|
rs1388773073 CA372186345 |
82 | H>Y | No |
ClinGen gnomAD |
|
CA4876139 rs755328553 |
84 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1445547755 CA372186298 |
84 | S>R | No |
ClinGen gnomAD |
|
rs1345821216 CA372186291 |
85 | D>G | No |
ClinGen TOPMed |
|
CA372186283 rs1243105803 |
86 | I>V | No |
ClinGen gnomAD |
|
rs141144013 CA4876138 |
87 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1182234537 CA372186273 |
87 | M>V | No |
ClinGen gnomAD |
|
CA4876137 rs756573853 |
88 | I>N | No |
ClinGen ExAC gnomAD |
|
CA4876136 rs756573853 |
88 | I>S | No |
ClinGen ExAC gnomAD |
|
rs750958886 CA4876135 |
91 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4876133 rs757383851 |
93 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs937569829 CA185368440 |
95 | M>I | No |
ClinGen TOPMed gnomAD |
|
rs79403769 CA4876131 |
96 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA372186123 rs79403769 |
96 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4876132 rs79403769 |
96 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA185368397 rs954188634 |
97 | V>L | No |
ClinGen TOPMed |
|
CA372186114 rs954188634 |
97 | V>M | No |
ClinGen TOPMed |
|
rs762673763 CA372186048 |
103 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762673763 CA4876130 |
103 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372186032 rs1197562132 |
105 | V>A | No |
ClinGen TOPMed |
|
rs1329612348 CA372186025 |
106 | S>L | No |
ClinGen gnomAD |
|
CA372186022 rs1563811969 |
107 | G>W | No |
ClinGen Ensembl |
|
CA372186013 rs1202630552 |
108 | E>V | No |
ClinGen TOPMed gnomAD |
|
rs113659517 CA372186007 |
109 | A>D | No |
ClinGen gnomAD |
|
rs191844570 CA4876126 |
109 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA185368337 rs113659517 |
109 | A>V | No |
ClinGen gnomAD |
|
rs776529955 CA4876124 |
112 | D>E | No |
ClinGen ExAC gnomAD |
|
CA4876125 rs759529407 |
112 | D>G | No |
ClinGen ExAC gnomAD |
|
rs759529407 CA372185990 |
112 | D>V | No |
ClinGen ExAC gnomAD |
|
CA372185975 rs1196809199 |
114 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs763298619 CA372185967 |
115 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs544555954 CA4876120 |
116 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs544555954 CA4876121 |
116 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA372185950 rs1482417091 |
117 | L>F | No |
ClinGen gnomAD |
|
rs373440506 CA4876117 COSM1096066 |
118 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA372185932 rs1586615234 |
119 | F>V | No |
ClinGen Ensembl |
|
CA372185915 rs1586615215 |
121 | I>S | No |
ClinGen Ensembl |
|
CA185368279 rs577510947 |
122 | V>I | No |
ClinGen 1000Genomes |
|
rs1403757250 CA372185892 |
125 | P>A | No |
ClinGen TOPMed |
|
rs144307746 CA4876116 |
126 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4876115 rs781751895 |
127 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1341930421 CA372185880 |
127 | P>R | No |
ClinGen TOPMed |
|
rs781751895 CA372185881 |
127 | P>S | No |
ClinGen ExAC gnomAD |
|
CA185368243 rs867165355 |
129 | L>V | No |
ClinGen TOPMed |
|
CA372185857 rs1280000605 |
131 | D>N | No |
ClinGen gnomAD |
|
CA372185836 rs1238462212 |
133 | Q>R | No |
ClinGen gnomAD |
|
rs369223774 CA185368231 |
135 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs369223774 CA4876114 |
135 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1480457639 CA372184377 |
136 | K>* | No |
ClinGen gnomAD |
|
rs1424069164 CA372184362 |
138 | L>W | No |
ClinGen gnomAD |
|
rs1223314292 CA372184349 |
140 | P>T | No |
ClinGen TOPMed |
|
CA372184344 rs1189052687 |
141 | E>Q | No |
ClinGen gnomAD |
|
CA372184257 rs1247711510 |
147 | E>D | No |
ClinGen TOPMed |
|
rs114211637 CA4876091 |
149 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4876089 rs754787261 |
149 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4876090 rs114211637 |
149 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_028139 CA4876088 rs16904151 RCV000961895 |
150 | R>K | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4876087 rs766304265 |
154 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA185358664 rs766304265 |
154 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs570433175 CA372184142 |
156 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs148475316 CA4876085 |
157 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4876083 rs761196170 |
162 | V>G | No |
ClinGen ExAC gnomAD |
|
rs774076693 CA372184069 |
163 | E>A | No |
ClinGen ExAC gnomAD |
|
rs774076693 CA4876082 |
163 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1206126466 CA372184051 |
165 | I>F | No |
ClinGen gnomAD |
|
rs1045544002 CA185358608 |
165 | I>N | No |
ClinGen Ensembl |
|
CA372184026 rs1452758944 |
166 | N>K | No |
ClinGen gnomAD |
|
rs763783378 CA4876081 |
167 | N>D | No |
ClinGen ExAC gnomAD |
|
rs201826548 CA4876080 |
167 | N>S | No |
ClinGen ExAC gnomAD |
|
CA372184007 rs1411296604 |
168 | T>A | No |
ClinGen gnomAD |
|
rs1419715780 CA372183996 |
169 | V>M | No |
ClinGen gnomAD |
|
CA372183983 rs1323587334 |
170 | L>M | No |
ClinGen TOPMed |
|
rs1367326536 CA372183966 |
171 | Y>C | No |
ClinGen TOPMed |
|
CA4876078 COSM229115 rs375510820 |
172 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1184102986 CA372183913 |
174 | S>T | No |
ClinGen gnomAD |
|
rs747603724 CA4876077 |
177 | N>D | No |
ClinGen ExAC gnomAD |
|
CA372183867 rs1226724057 |
177 | N>T | No |
ClinGen TOPMed gnomAD |
|
rs1235800630 CA372183847 |
178 | I>T | No |
ClinGen gnomAD |
|
CA4876076 rs773564089 |
179 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772222662 CA4876075 |
182 | I>T | No |
ClinGen ExAC gnomAD |
|
CA372183781 rs201944967 |
183 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs201944967 CA4876074 |
183 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA185358549 rs934581138 |
185 | W>R | No |
ClinGen Ensembl |
|
CA372183722 rs1316416759 |
187 | T>A | No |
ClinGen gnomAD |
|
CA372183705 rs1395929306 |
188 | Y>C | No |
ClinGen gnomAD |
|
rs749507712 CA4876071 |
189 | G>D | No |
ClinGen ExAC gnomAD |
|
CA372183693 rs1300580183 |
189 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs780217662 CA4876052 |
191 | G>V | No |
ClinGen ExAC gnomAD |
|
CA372183305 rs1401985324 |
192 | Q>P | No |
ClinGen gnomAD |
|
rs1586594516 CA372183293 |
193 | G>R | No |
ClinGen Ensembl |
|
rs755966363 CA4876051 |
195 | G>R | No |
ClinGen ExAC |
|
CA4876050 rs73406822 |
196 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs374508236 CA4876049 |
197 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4876048 rs149293328 |
197 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA185351524 rs374508236 |
197 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA185351513 rs149293328 |
197 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs954409907 CA185351507 |
199 | R>G | No |
ClinGen TOPMed |
|
rs1209911584 CA372183155 |
203 | K>R | No |
ClinGen TOPMed |
|
rs200990251 CA372183141 |
204 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM3317173 CA4876046 rs200990251 |
204 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA372183098 rs1225977236 |
207 | L>R | No |
ClinGen gnomAD |
|
rs975555344 CA185351493 |
209 | K>Q | No |
ClinGen TOPMed |
|
CA372183058 COSM1187614 rs1347014620 |
210 | G>D | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA4876041 rs761111935 |
211 | M>I | No |
ClinGen ExAC gnomAD |
|
rs764930991 CA4876042 |
211 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1290606624 CA372183022 |
212 | V>A | No |
ClinGen gnomAD |
|
rs750683131 CA372183026 |
212 | V>L | No |
ClinGen ExAC gnomAD |
|
rs750683131 CA4876040 |
212 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1157054387 CA372182898 |
220 | L>R | No |
ClinGen gnomAD |
|
CA185351449 rs900292984 |
222 | I>V | No |
ClinGen TOPMed |
|
CA372182851 rs1432815651 |
224 | E>K | No |
ClinGen TOPMed |
|
CA4876037 rs201872844 |
225 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4876016 rs752090078 |
226 | A>D | No |
ClinGen ExAC gnomAD |
|
rs768762583 CA4876036 |
226 | A>P | No |
ClinGen ExAC gnomAD |
|
rs768762583 CA372182815 |
226 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1237294987 CA372182110 |
227 | I>M | No |
ClinGen TOPMed |
|
rs1346309359 CA372182077 |
229 | I>N | No |
ClinGen TOPMed |
|
rs763026962 CA4876014 |
230 | S>L | No |
ClinGen ExAC gnomAD |
|
CA372182010 COSM1096064 rs1308814649 |
231 | D>G | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs775614968 CA4876013 |
231 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA185350479 rs933934327 |
232 | D>G | No |
ClinGen Ensembl |
|
rs1459099348 CA372181961 |
233 | D>N | No |
ClinGen TOPMed |
|
rs949715371 CA185350458 |
234 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs949715371 CA372181932 |
234 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs1388675095 CA372181901 |
235 | Q>L | No |
ClinGen gnomAD |
|
rs1388675095 CA372181898 |
235 | Q>R | No |
ClinGen gnomAD |
|
CA185350450 rs915633900 COSM176724 |
236 | R>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs769904707 CA4876012 |
237 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759730605 CA4876011 |
240 | D>H | No |
ClinGen ExAC gnomAD |
|
CA372180155 rs753181335 |
243 | E>* | No |
ClinGen ExAC gnomAD |
|
rs753181335 CA4875994 COSM281572 |
243 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1486853126 CA372180136 |
244 | I>F | No |
ClinGen TOPMed gnomAD |
|
CA372180138 rs1486853126 |
244 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs759624672 CA4875992 |
246 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1478901216 CA372180067 |
247 | M>I | No |
ClinGen TOPMed |
|
rs776743103 CA4875991 |
250 | Y>F | No |
ClinGen ExAC gnomAD |
|
CA4875990 rs377444902 |
251 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs138900124 CA4875989 |
252 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs138900124 CA185346791 |
252 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs115622630 CA185346780 |
253 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4875988 rs773205428 |
253 | A>S | No |
ClinGen ExAC gnomAD |
|
rs115622630 CA4875987 |
253 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs986247138 CA185346773 |
254 | R>G | No |
ClinGen Ensembl |
|
CA4875984 rs768081301 |
255 | S>N | No |
ClinGen ExAC gnomAD |
|
CA372179916 rs1392710438 |
255 | S>R | No |
ClinGen TOPMed |
|
CA185346761 rs200006561 |
256 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs373684856 CA4875983 |
256 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1294280324 CA372179885 |
257 | G>R | No |
ClinGen gnomAD |
|
rs1343290547 CA372179875 |
257 | G>V | No |
ClinGen TOPMed |
|
rs150792538 CA4875980 |
260 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1362645153 CA372179757 |
264 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA372179739 rs1245908403 |
265 | I>F | No |
ClinGen gnomAD |
|
CA372179717 rs1196743016 |
265 | I>M | No |
ClinGen gnomAD |
|
CA4875975 rs765728176 |
269 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372179659 rs765728176 |
269 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4875974 rs141073989 |
271 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA372179609 rs766559947 |
272 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753886861 CA4875973 |
272 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372179612 rs753886861 |
272 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4875972 rs766559947 |
272 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773542987 CA4875970 |
273 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1433244828 CA372179503 |
277 | M>T | No |
ClinGen gnomAD |
|
rs1425647326 CA372179470 |
278 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA4875967 rs574276492 |
279 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs373460186 CA185346717 |
281 | P>T | No |
ClinGen gnomAD |
|
CA372178641 rs1358255154 |
283 | L>P | No |
ClinGen gnomAD |
|
rs368850633 CA4875953 |
285 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1167944979 CA372178618 |
286 | T>A | No |
ClinGen gnomAD |
|
CA372178614 rs1447594610 |
286 | T>I | No |
ClinGen gnomAD |
|
rs1167944979 CA372178617 |
286 | T>S | No |
ClinGen gnomAD |
|
CA4875952 rs780326163 |
287 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs1272193294 CA372178590 |
289 | F>L | No |
ClinGen TOPMed gnomAD |
|
CA4875951 rs529616613 |
291 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA372178576 rs529616613 |
291 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA4875948 rs373573200 |
292 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs373573200 CA4875949 |
292 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs751300382 CA4875947 |
294 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4875923 rs770331372 |
298 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4875921 COSM1096062 rs770331372 |
298 | E>K | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs770331372 CA4875922 |
298 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4875920 rs760421413 |
299 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA185346308 rs142858365 |
300 | V>I | No |
ClinGen 1000Genomes |
|
CA4875919 rs772705468 |
301 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs201857986 CA185346302 |
304 | P>Q | No |
ClinGen Ensembl |
|
CA372178472 rs1359308228 |
305 | V>A | No |
ClinGen Ensembl |
|
CA4875894 rs771066017 |
306 | G>E | No |
ClinGen ExAC gnomAD |
|
rs369317212 CA4875893 |
307 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373058778 CA4875892 |
308 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1420288016 CA372178442 |
309 | E>Q | No |
ClinGen TOPMed |
|
CA185346067 rs369920568 |
311 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4875890 rs369920568 |
311 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs369920568 CA4875889 |
311 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA372178403 rs997741728 |
311 | P>S | No |
ClinGen gnomAD |
|
rs997741728 CA185346083 |
311 | P>T | No |
ClinGen gnomAD |
|
CA4875888 rs778726000 |
312 | F>L | No |
ClinGen ExAC TOPMed |
|
rs754732316 CA4875886 |
312 | F>L | No |
ClinGen ExAC gnomAD |
|
CA185345610 rs959369231 |
317 | K>R | No |
ClinGen Ensembl |
|
CA4875861 rs756788046 |
320 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA185345606 rs756788046 |
320 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA4875860 rs751281101 |
321 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751281101 CA372178305 |
321 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1455783624 CA372178303 |
322 | E>K | No |
ClinGen TOPMed |
|
rs1159691987 CA372178285 |
324 | F>C | No |
ClinGen TOPMed |
|
rs759986457 CA4875858 |
325 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA4875855 rs761139010 |
327 | I>M | No |
ClinGen ExAC gnomAD |
|
rs766757505 CA4875856 |
327 | I>T | No |
ClinGen ExAC gnomAD |
|
CA4875857 rs374611855 |
327 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA185345572 rs966800345 |
330 | L>V | No |
ClinGen gnomAD |
|
CA185345553 rs149922852 |
331 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs149922852 CA4875853 |
331 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs369892614 CA4875852 |
332 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs774567484 CA4875851 |
332 | Q>R | No |
ClinGen ExAC |
|
CA4875849 rs139154539 |
337 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4875848 rs139154539 |
337 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA372178207 rs1211927289 |
337 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA4875847 rs769609242 |
338 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA4875845 rs781227916 |
339 | D>N | No |
ClinGen ExAC gnomAD |
|
CA4875846 rs781227916 |
339 | D>Y | No |
ClinGen ExAC gnomAD |
|
rs1010063841 CA185345521 |
340 | V>I | No |
ClinGen gnomAD |
|
rs756843173 CA4875844 |
341 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4875843 rs76700535 |
343 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4875842 rs777421063 |
344 | S>R | No |
ClinGen ExAC gnomAD |
|
CA372178154 rs1324441287 |
345 | I>V | No |
ClinGen gnomAD |
|
rs1032891525 CA185345490 |
347 | A>D | No |
ClinGen Ensembl |
|
rs373501715 CA4875839 |
348 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
CA4875840 rs749257738 |
348 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1244811507 CA372178137 |
348 | M>V | No |
ClinGen TOPMed |
|
rs761056719 CA4875838 |
349 | L>V | No |
ClinGen ExAC gnomAD |
|
CA4875833 rs761884305 |
354 | A>P | No |
ClinGen ExAC gnomAD |
|
rs761884305 CA372178081 |
354 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1466364878 CA372178074 |
354 | A>V | No |
ClinGen gnomAD |
|
rs868293824 CA185345453 |
357 | D>N | No |
ClinGen Ensembl |
|
CA185345447 rs139994074 |
359 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4875831 rs139994074 |
359 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA372178004 rs1201432668 |
360 | N>K | No |
ClinGen gnomAD |
|
CA4875830 rs763132646 |
360 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1023788010 CA185345422 |
360 | N>Y | No |
ClinGen TOPMed gnomAD |
|
rs759674281 CA4875807 |
362 | L>M | No |
ClinGen ExAC gnomAD |
|
CA4875805 rs770829453 |
364 | L>S | No |
ClinGen ExAC gnomAD |
|
rs746987965 CA4875804 |
365 | D>E | No |
ClinGen ExAC gnomAD |
|
CA372177897 rs1451521911 |
365 | D>V | No |
ClinGen TOPMed |
|
CA4875803 rs773248235 |
366 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372177887 rs773248235 |
366 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771500874 CA4875802 |
368 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372177871 rs1182455681 |
368 | G>S | No |
ClinGen gnomAD |
|
CA372177847 rs1184826791 |
370 | L>S | No |
ClinGen gnomAD |
|
rs1465654652 CA372177849 |
370 | L>V | No |
ClinGen TOPMed |
|
CA4875801 rs146298406 |
371 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1444716047 CA372177831 |
372 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs113476200 CA185345133 |
374 | G>D | No |
ClinGen Ensembl |
|
rs778432458 COSM604173 CA4875800 |
374 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA372177819 rs1163898067 |
375 | G>S | No |
ClinGen TOPMed |
|
CA4875797 rs781584471 |
376 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4875798 rs748924722 |
376 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA185345119 rs756471596 |
377 | I>T | No |
ClinGen TOPMed |
|
CA4875796 rs757586374 |
377 | I>V | No |
ClinGen ExAC |
|
CA372177789 rs1319388204 |
380 | K>E | No |
ClinGen TOPMed |
|
CA372177772 rs1333727142 |
382 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs750869353 CA185345110 |
382 | Q>K | No |
ClinGen Ensembl |
|
CA372177775 rs1205272477 |
382 | Q>P | No |
ClinGen gnomAD |
|
rs1289205515 CA372177768 |
383 | Q>K | No |
ClinGen gnomAD |
|
rs764604422 CA4875794 |
384 | D>H | No |
ClinGen ExAC gnomAD |
|
rs764604422 CA4875793 |
384 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA4875792 rs758413625 |
385 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA185345070 rs371390275 |
386 | N>D | No |
ClinGen ESP |
|
rs1297609721 CA372177733 |
388 | A>E | No |
ClinGen gnomAD |
|
rs765220246 CA4875790 |
389 | W>* | No |
ClinGen ExAC gnomAD |
|
rs899351019 CA185345030 |
389 | W>C | No |
ClinGen gnomAD |
|
rs762161458 CA4875789 |
392 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1286979850 CA372177696 |
393 | K>E | No |
ClinGen TOPMed |
|
CA372177679 rs1586572888 |
394 | D>A | No |
ClinGen Ensembl |
|
rs766313314 CA4875787 |
394 | D>N | No |
ClinGen ExAC gnomAD |
|
CA4875786 rs760827512 |
398 | Y>* | No |
ClinGen ExAC gnomAD |
|
rs1175776431 CA372177591 |
402 | A>G | No |
ClinGen gnomAD |
|
rs760493267 CA4875785 |
403 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372177561 rs1435016137 |
404 | M>I | No |
ClinGen Ensembl |
|
rs773291879 CA4875784 |
404 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA185344993 rs958243335 |
404 | M>V | No |
ClinGen TOPMed |
|
CA4875756 rs748724070 |
405 | V>A | No |
ClinGen ExAC gnomAD |
|
rs771975440 CA4875783 |
405 | V>L | No |
ClinGen ExAC gnomAD |
|
CA372177475 rs751797551 |
406 | L>P | No |
ClinGen gnomAD |
|
CA185344721 rs751797551 |
406 | L>Q | No |
ClinGen gnomAD |
|
rs779244141 CA4875755 |
407 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA185344714 rs755118406 |
408 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA185344694 rs374279128 |
411 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4875752 rs374279128 |
411 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1484150576 CA372177406 |
411 | H>Y | No |
ClinGen TOPMed gnomAD |
|
COSM1454829 CA4875750 rs114264223 |
412 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs756962115 CA4875748 |
415 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs868342635 CA185344680 |
416 | C>Y | No |
ClinGen Ensembl |
|
rs1325904597 CA372177336 |
417 | S>C | No |
ClinGen gnomAD |
|
rs1228291009 CA372177340 |
417 | S>T | No |
ClinGen gnomAD |
|
CA372177327 rs1187384840 |
418 | M>K | No |
ClinGen TOPMed |
|
rs751537547 CA4875747 |
418 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA372177287 rs1367238168 |
421 | R>K | No |
ClinGen TOPMed |
|
CA4875746 rs763952862 |
422 | I>T | No |
ClinGen ExAC gnomAD |
|
CA372177259 rs1563785298 |
424 | L>F | No |
ClinGen Ensembl |
|
rs550680319 CA372177236 |
426 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs550680319 CA4875744 |
426 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs764706903 CA4875743 |
428 | E>* | No |
ClinGen ExAC gnomAD |
|
rs764706903 CA372177209 |
428 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs370978892 CA4875741 |
429 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
CA4875742 rs759275225 |
429 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1437191534 CA372177152 |
430 | V>I | No |
ClinGen gnomAD |
|
CA4875720 rs550396087 |
432 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA4875719 rs532245909 |
433 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA4875718 rs776098748 |
434 | L>M | No |
ClinGen ExAC gnomAD |
|
CA372177109 rs1272850493 |
436 | P>L | No |
ClinGen gnomAD |
|
rs1358111388 CA372177112 |
436 | P>S | No |
ClinGen TOPMed |
|
rs770014882 CA4875717 |
437 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4875716 rs569568081 |
439 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs34385086 CA4875715 |
440 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1238718560 CA372177083 |
440 | Y>C | No |
ClinGen gnomAD |
|
CA372177086 rs1280516391 |
440 | Y>H | No |
ClinGen gnomAD |
|
CA4875713 rs149748731 |
441 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA372177077 rs149748731 |
441 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1047596087 CA185344062 |
441 | P>S | No |
ClinGen Ensembl |
|
rs897671513 COSM234247 CA185344052 |
442 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs897671513 CA372177072 |
442 | W>L | No |
ClinGen gnomAD |
|
CA4875711 rs758152327 |
443 | S>G | No |
ClinGen ExAC gnomAD |
|
CA185344026 rs200964859 |
443 | S>N | No |
ClinGen gnomAD |
|
CA372177039 rs1158967038 |
447 | T>N | No |
ClinGen TOPMed gnomAD |
|
rs562110298 CA185344015 |
447 | T>P | No |
ClinGen Ensembl |
|
CA4875709 rs778760906 |
450 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1195655500 CA372177009 |
452 | L>I | No |
ClinGen gnomAD |
|
CA4875707 rs753360215 |
454 | A>T | No |
ClinGen ExAC gnomAD |
|
CA372176985 rs765903577 |
456 | L>F | No |
ClinGen ExAC gnomAD |
|
CA4875706 rs765903577 |
456 | L>I | No |
ClinGen ExAC gnomAD |
|
CA185343999 rs943573369 |
458 | S>G | No |
ClinGen TOPMed gnomAD |
|
CA4875705 rs760297354 |
458 | S>N | No |
ClinGen ExAC gnomAD |
|
CA185343996 rs926525412 |
460 | G>R | No |
ClinGen Ensembl |
|
rs750072260 CA4875704 |
462 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1204954355 CA372176943 |
462 | A>V | No |
ClinGen gnomAD |
|
rs1483378132 CA372176936 |
463 | I>T | No |
ClinGen TOPMed |
|
CA4875702 rs202184744 |
463 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs776155660 CA4875701 |
464 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4875700 rs770270429 |
465 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1370837740 CA372176921 |
465 | Y>N | No |
ClinGen gnomAD |
|
CA4875698 rs776622434 |
466 | G>A | No |
ClinGen ExAC gnomAD |
|
rs369201045 CA4875699 |
466 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1399955907 CA372176892 |
467 | L>P | No |
ClinGen gnomAD |
|
CA372176881 rs1432332922 |
469 | E>Q | No |
ClinGen TOPMed |
|
rs1406975028 CA372176862 |
470 | E>D | No |
ClinGen gnomAD |
|
CA372176839 rs1175211774 |
472 | G>D | No |
ClinGen gnomAD |
|
rs1563784114 CA372176833 |
473 | L>F | No |
ClinGen Ensembl |
|
CA4875694 rs771864086 |
474 | R>S | No |
ClinGen ExAC gnomAD |
|
rs754932128 CA4875691 |
475 | M>I | No |
ClinGen ExAC gnomAD |
|
rs4144738 CA4875692 VAR_028140 |
475 | M>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs747867390 CA4875693 |
475 | M>V | No |
ClinGen ExAC gnomAD |
|
CA372176767 rs1391375173 |
478 | D>E | No |
ClinGen TOPMed |
|
CA372176772 rs1371701310 |
478 | D>G | No |
ClinGen TOPMed |
|
CA4875690 rs753795099 |
479 | N>D | No |
ClinGen ExAC gnomAD |
|
rs1586569777 CA372176748 |
479 | N>K | No |
ClinGen Ensembl |
|
rs755612165 CA4875688 |
480 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755612165 CA4875689 |
480 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750123614 CA4875687 |
481 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150668828 CA185343917 COSM107630 |
482 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs374835768 CA4875685 |
484 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs919279559 CA372176638 |
485 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA4875684 rs753169677 |
485 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1231505866 CA372176629 |
486 | V>I | No |
ClinGen gnomAD |
|
CA372176537 rs1363439926 |
490 | M>V | No |
ClinGen gnomAD |
|
CA4875683 rs115019901 |
491 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA372176499 rs115019901 |
491 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA372176504 rs201817415 |
491 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA185343873 rs201817415 |
491 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA185343853 rs979564302 |
492 | L>P | No |
ClinGen Ensembl |
|
CA372176458 rs1415125488 |
493 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA372176464 rs1415125488 |
493 | S>Y | No |
ClinGen TOPMed gnomAD |
|
CA4875679 rs770936296 |
494 | A>S | No |
ClinGen ExAC gnomAD |
|
CA4875678 rs760686608 |
494 | A>V | No |
ClinGen ExAC gnomAD |
|
CA372176374 rs1474564773 |
498 | T>A | No |
ClinGen gnomAD |
|
COSM1454828 rs748360610 CA4875675 |
499 | L>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA4875674 rs778626448 |
500 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1189148616 CA372176333 |
500 | S>P | No |
ClinGen gnomAD |
|
rs1207243167 CA372176232 |
503 | Q>H | No |
ClinGen gnomAD |
|
rs749217446 CA4875670 |
507 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4875671 rs374274478 |
507 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1166688664 CA372176136 |
508 | A>V | No |
ClinGen TOPMed |
|
CA4875669 rs779994855 |
509 | A>E | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9BYG8
4 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
integral component of membrane | The component of a 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 |
---|---|
phosphatidylinositol-4,5-bisphosphate binding | Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions. |
phosphatidylinositol-4-phosphate binding | Binding to phosphatidylinositol-4-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' position. |
phosphatidylserine binding | Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine. |
2 GO annotations of biological process
Name | Definition |
---|---|
defense response to bacterium | Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. |
pyroptosis | A caspase-1-dependent cell death subroutine that is associated with the generation of pyrogenic mediators such as IL-1beta and IL-18. |
12 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P57764 | GSDMD | Gasdermin-D | Homo sapiens (Human) | EV |
Q96QA5 | GSDMA | Gasdermin-A | Homo sapiens (Human) | SS |
Q8TAX9 | GSDMB | Gasdermin-B | Homo sapiens (Human) | EV |
Q32M21 | Gsdma2 | Gasdermin-A2 | Mus musculus (Mouse) | SS |
Q5Y4Y6 | Gsdma3 | Gasdermin-A3 | Mus musculus (Mouse) | EV |
Q8CB12 | Gsdmc3 | Gasdermin-C3 | Mus musculus (Mouse) | SS |
Q9D8T2 | Gsdmd | Gasdermin-D | Mus musculus (Mouse) | SS |
Q9EST1 | Gsdma | Gasdermin-A | Mus musculus (Mouse) | SS |
Q2KHK6 | Gsdmc2 | Gasdermin-C2 | Mus musculus (Mouse) | SS |
Q3TR54 | Gsdmc4 | Gasdermin-C4 | Mus musculus (Mouse) | SS |
Q99NB5 | Gsdmc | Gasdermin-C | Mus musculus (Mouse) | SS |
P85967 | Gsdmc | Gasdermin-C | Rattus norvegicus (Rat) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MPSMLERISK | NLVKEIGSKD | LTPVKYLLSA | TKLRQFVILR | KKKDSRSSFW | EQSDYVPVEF |
70 | 80 | 90 | 100 | 110 | 120 |
SLNDILEPSS | SVLETVVTGP | FHFSDIMIQK | HKADMGVNVG | IEVSVSGEAS | VDHGCSLEFQ |
130 | 140 | 150 | 160 | 170 | 180 |
IVTIPSPNLE | DFQKRKLLDP | EPSFLKECRR | RGDNLYVVTE | AVELINNTVL | YDSSSVNILG |
190 | 200 | 210 | 220 | 230 | 240 |
KIALWITYGK | GQGQGESLRV | KKKALTLQKG | MVMAYKRKQL | VIKEKAILIS | DDDEQRTFQD |
250 | 260 | 270 | 280 | 290 | 300 |
EYEISEMVGY | CAARSEGLLP | SFHTISPTLF | NASSNDMKLK | PELFLTQQFL | SGHLPKYEQV |
310 | 320 | 330 | 340 | 350 | 360 |
HILPVGRIEE | PFWQNFKHLQ | EEVFQKIKTL | AQLSKDVQDV | MFYSILAMLR | DRGALQDLMN |
370 | 380 | 390 | 400 | 410 | 420 |
MLELDSSGHL | DGPGGAILKK | LQQDSNHAWF | NPKDPILYLL | EAIMVLSDFQ | HDLLACSMEK |
430 | 440 | 450 | 460 | 470 | 480 |
RILLQQQELV | RSILEPNFRY | PWSIPFTLKP | ELLAPLQSEG | LAITYGLLEE | CGLRMELDNP |
490 | 500 | ||||
RSTWDVEAKM | PLSALYGTLS | LLQQLAEA |