Q96K49
PR
Gene name |
TMEM87B |
Protein name |
Transmembrane protein 87B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84910 |
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 Q96K49
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96K49-F1 | Predicted | AlphaFoldDB |
439 variants for Q96K49
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA53614969 rs868184286 |
2 | V>A | No |
ClinGen Ensembl |
|
|
CA1832023 rs777629805 |
2 | V>I | No |
ClinGen ExAC |
|
|
rs1224994462 CA348250986 |
3 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs749230055 CA1832024 |
4 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA348250989 rs749230055 |
4 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA53614978 rs62001036 |
5 | C>Y | No |
ClinGen gnomAD |
|
|
rs1253656997 CA348251085 |
6 | R>C | No |
ClinGen gnomAD |
|
|
rs1054570772 CA53614981 |
7 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1832025 rs145486099 |
8 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA53614988 rs945817316 |
9 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA348251117 rs1033677217 |
10 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA53614999 rs1033677217 |
10 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1480019241 CA348251141 |
11 | L>F | No |
ClinGen gnomAD |
|
|
CA348251156 rs1573670573 |
11 | L>P | No |
ClinGen Ensembl |
|
|
CA1832027 rs745973100 |
12 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348251175 rs1462457870 |
13 | P>S | No |
ClinGen gnomAD |
|
|
rs772333086 CA1832029 |
14 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348251195 rs1393713775 |
14 | R>H | No |
ClinGen gnomAD |
|
|
rs772333086 CA53615012 |
14 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775632127 CA1832030 |
15 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs775632127 CA1832031 |
15 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1345260568 CA348251250 |
16 | R>L | No |
ClinGen gnomAD |
|
|
rs764554562 CA1832032 |
17 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759069943 CA1832033 |
18 | C>* | No |
ClinGen ExAC TOPMed |
|
|
rs1478964392 CA348251306 |
18 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1298333469 CA348251314 |
18 | C>S | No |
ClinGen gnomAD |
|
|
CA1832035 rs530469890 |
20 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348251376 rs1227359640 |
20 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1832037 rs765715924 |
21 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs765715924 CA1832036 |
21 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA348251407 rs1223483564 |
22 | R>P | No |
ClinGen gnomAD |
|
|
rs1223483564 CA348251406 |
22 | R>Q | No |
ClinGen gnomAD |
|
|
rs973890294 CA53615042 |
22 | R>W | No |
ClinGen TOPMed |
|
|
rs1026928944 CA53615044 |
23 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1026928944 CA348251413 |
23 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1832039 rs767186599 |
23 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA348251428 rs1422846927 |
24 | P>S | No |
ClinGen TOPMed |
|
|
CA1832041 rs752309698 |
25 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs752309698 CA1832040 |
25 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1263011745 CA348251459 |
27 | R>G | No |
ClinGen TOPMed |
|
|
CA348251474 rs1573670777 |
28 | V>I | No |
ClinGen Ensembl |
|
|
rs199855000 CA1832046 |
30 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1320120358 CA348251523 |
31 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs772054464 CA1832047 |
31 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA348251906 rs1275191574 |
32 | L>R | No |
ClinGen TOPMed |
|
|
CA1832051 rs777111962 |
34 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA1832052 rs762310705 |
36 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA348251988 rs1291167711 |
36 | T>I | No |
ClinGen gnomAD |
|
|
CA1832053 rs532353568 |
37 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1832054 rs532353568 |
37 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1017377309 CA53615135 |
40 | V>M | No |
ClinGen Ensembl |
|
|
rs962807452 CA53615136 |
41 | R>P | No |
ClinGen Ensembl |
|
|
rs766944323 CA1832056 |
43 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs752310440 CA1832057 |
44 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA348252113 rs1363860794 |
44 | P>S | No |
ClinGen TOPMed |
|
|
rs1208538283 CA348252182 |
47 | G>E | No |
ClinGen Ensembl |
|
|
CA1832058 rs368480880 |
48 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348252212 rs1457143114 |
49 | W>* | No |
ClinGen TOPMed |
|
|
CA348252210 rs1457143114 |
49 | W>S | No |
ClinGen TOPMed |
|
|
rs1043866329 CA53615160 |
51 | E>* | No |
ClinGen TOPMed |
|
|
CA348252260 rs1163624992 |
51 | E>G | No |
ClinGen gnomAD |
|
|
rs1461452167 CA348252311 |
53 | V>G | No |
ClinGen TOPMed |
|
|
CA1832060 rs753623692 |
54 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA53575561 rs748113413 |
56 | K>E | No |
ClinGen TOPMed |
|
|
CA348230411 rs1408770802 |
57 | S>* | No |
ClinGen gnomAD |
|
|
CA53575573 rs760242854 |
59 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1832080 rs760242854 |
59 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1357490948 CA348230427 |
60 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA348230444 rs1383396855 |
63 | R>G | No |
ClinGen TOPMed |
|
|
rs1216709430 CA348230456 |
64 | K>T | No |
ClinGen gnomAD |
|
|
rs1444521154 CA348230460 |
65 | T>A | No |
ClinGen gnomAD |
|
|
CA1832083 rs371469786 |
66 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1832082 rs776275872 |
66 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765711213 CA53575603 |
68 | N>H | No |
ClinGen Ensembl |
|
|
rs764971826 CA1832084 |
70 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764971826 CA53575604 |
70 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758245229 CA1832086 |
71 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 72 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766456830 CA1832087 |
72 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179571241 COSM1690899 CA348230530 |
75 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs766407553 CA1832107 |
78 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1832108 rs199661294 |
81 | C>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA |
|
rs755041108 CA1832109 |
82 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1432800349 CA348231105 |
82 | S>T | No |
ClinGen gnomAD |
|
|
CA53578214 rs1019257521 |
83 | G>E | No |
ClinGen Ensembl |
|
|
rs1270761973 CA348231130 |
84 | P>T | No |
ClinGen gnomAD |
|
|
CA1832110 rs767740398 |
85 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA53578254 rs867361972 |
86 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA348231240 rs1229219138 |
90 | V>M | No |
ClinGen TOPMed |
|
|
CA1832112 rs756271652 |
95 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291546519 CA348231360 |
96 | H>Y | No |
ClinGen TOPMed |
|
|
CA348231421 rs573166820 |
99 | H>Q | No |
ClinGen 1000Genomes ExAC |
|
|
rs553123977 CA1832113 |
99 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs999086896 CA53578271 |
100 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs757629008 CA1832116 |
103 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1194486824 CA348231509 |
104 | N>D | No |
ClinGen gnomAD |
|
|
CA348231552 rs1399967736 |
106 | E>V | No |
ClinGen TOPMed |
|
|
rs1553464381 CA348231659 |
110 | Q>* | No |
ClinGen Ensembl |
|
|
CA348231700 rs1444145977 |
115 | S>N | No |
ClinGen gnomAD |
|
|
rs1185667435 CA348231707 |
116 | V>A | No |
ClinGen gnomAD |
|
|
CA1832133 rs754092420 |
117 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1158884308 CA348231788 |
127 | D>N | No |
ClinGen gnomAD |
|
|
rs779270695 CA1832135 |
128 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757573780 CA1832134 |
128 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1338696269 CA348231807 |
129 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1406158285 CA348231816 |
130 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 133 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 134 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759335658 CA53580106 |
134 | N>T | No |
ClinGen gnomAD |
|
|
rs750835176 CA1832136 |
137 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM3039340 CA53580126 rs927467818 |
140 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA348232019 rs1369684851 |
144 | Q>* | No |
ClinGen TOPMed |
|
|
rs1369684851 CA348232022 |
144 | Q>E | No |
ClinGen TOPMed |
|
|
rs1288041148 CA348232062 |
145 | V>A | No |
ClinGen gnomAD |
|
|
rs1327605259 CA348232072 |
146 | F>L | No |
ClinGen gnomAD |
|
| rs141654814 | 151 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1036735098 CA53585582 |
151 | N>D | No |
ClinGen TOPMed |
|
|
rs750780158 CA1832155 |
152 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs758819994 CA53585623 |
153 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758819994 CA1832156 |
153 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348233607 rs1558834675 |
154 | L>V | No |
ClinGen Ensembl |
|
|
CA1832159 rs752113797 |
155 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs780369452 CA1832158 |
155 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53585645 rs748026178 |
156 | N>H | No |
ClinGen Ensembl |
|
|
rs1337521476 CA348233650 |
157 | I>V | No |
ClinGen gnomAD |
|
|
rs1346791251 CA348233744 |
163 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 163 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748860181 CA1832162 |
164 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs777365553 CA1832161 |
164 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348233780 rs1391286322 |
165 | R>I | No |
ClinGen TOPMed |
|
|
CA1832167 rs201146763 |
167 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs201146763 CA53585674 |
167 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1832166 rs772511487 |
167 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746818102 CA1832189 |
168 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746818102 CA348234351 |
168 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445991750 CA348234363 |
168 | D>V | No |
ClinGen gnomAD |
|
|
rs768634347 CA1832190 |
169 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs768634347 CA348234366 |
169 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs776605634 CA1832191 |
172 | R>G | No |
ClinGen ExAC |
|
|
rs748166533 CA348234436 |
175 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1832192 rs748166533 |
175 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348234459 rs773385261 |
176 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1832194 rs773385261 |
176 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766560631 CA1832196 |
177 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1832199 rs768058066 |
179 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348234519 rs1192230150 |
179 | H>Y | No |
ClinGen TOPMed |
|
|
rs753273710 CA1832200 |
180 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348234594 rs1451374242 |
184 | S>P | No |
ClinGen TOPMed |
|
|
rs764859334 CA1832202 |
185 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs201189668 COSM1229752 CA1832203 |
187 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs746804573 CA1832206 |
188 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1266217274 CA348234734 |
191 | D>Y | No |
ClinGen gnomAD |
|
|
rs573397314 CA348234773 |
192 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573397314 CA1832207 |
192 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1832208 rs781042961 |
193 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53587110 rs781042961 |
193 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348236095 rs1464417707 |
199 | S>F | No |
ClinGen TOPMed |
|
|
CA1832231 rs148742306 |
202 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348236191 rs1478605453 |
203 | I>T | No |
ClinGen gnomAD |
|
|
rs770932485 CA1832233 |
205 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA348236244 rs1264568170 |
206 | H>R | No |
ClinGen TOPMed |
|
|
CA1832234 rs151250123 COSM1305553 |
206 | H>Y | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1573701954 CA348236252 |
207 | G>E | No |
ClinGen Ensembl |
|
|
CA1832236 rs772469677 |
209 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348236290 rs1384477723 |
210 | S>C | No |
ClinGen TOPMed |
|
|
rs775961826 CA1832237 |
213 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs759169505 CA1832245 |
219 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759169505 CA348236555 |
219 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348236595 rs898030301 CA53590022 |
221 | M>L | No |
ClinGen TOPMed |
|
|
rs767199877 CA1832247 |
222 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767199877 CA1832246 |
222 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53590023 TCGA novel rs755300036 |
223 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs77355506 CA1832248 |
223 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777633817 CA1832249 |
224 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475728110 CA348236679 |
224 | C>Y | No |
ClinGen TOPMed |
|
|
CA1832250 rs753727567 |
225 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363915058 CA348236750 |
227 | Y>H | No |
ClinGen gnomAD |
|
|
rs1490776011 CA348236789 |
228 | I>M | No |
ClinGen TOPMed |
|
|
CA1832251 rs779153449 |
228 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758685962 CA1832254 |
230 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1832253 rs201117984 |
230 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1832252 rs778832912 |
230 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA348236860 rs1204006424 |
231 | G>V | No |
ClinGen TOPMed |
|
|
CA1832255 rs374641751 |
236 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1247472937 CA348237060 |
239 | A>G | No |
ClinGen gnomAD |
|
|
rs182683537 CA1832258 |
244 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1832259 rs182683537 |
244 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143505295 CA1832261 |
245 | I>K | No |
ClinGen ESP ExAC |
|
|
rs759114604 CA1832262 |
245 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs767146900 CA1832263 |
247 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1359985367 CA348237385 |
248 | I>V | No |
ClinGen gnomAD |
|
|
CA53590082 rs1007571372 |
251 | W>R | No |
ClinGen TOPMed |
|
|
rs1214626431 CA348237540 |
253 | A>S | No |
ClinGen TOPMed |
|
|
rs775139945 CA1832264 |
253 | A>V | No |
ClinGen ExAC |
|
|
CA1832265 rs367763561 |
254 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA53590107 rs988147379 |
256 | I>M | No |
ClinGen Ensembl |
|
| rs750138307 | 258 | L>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273565442 CA348237839 |
260 | M>L | No |
ClinGen TOPMed |
|
|
rs1273565442 CA348237834 |
260 | M>V | No |
ClinGen TOPMed |
|
|
CA348237951 rs1432316337 |
263 | K>T | No |
ClinGen gnomAD |
|
|
rs1335662857 CA348238000 |
265 | V>D | No |
ClinGen gnomAD |
|
|
rs140358775 CA1832271 |
268 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1832270 rs757107316 |
268 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA53590113 rs1017903039 |
274 | S>G | No |
ClinGen TOPMed |
|
|
rs750453613 CA1832272 |
275 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758564231 CA1832273 |
276 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA348238363 rs758564231 |
276 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1832274 rs371595495 |
278 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA348240347 rs1200981886 |
281 | Q>* | No |
ClinGen gnomAD |
|
|
CA1832294 rs111236640 |
285 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348240390 rs758512878 |
287 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758512878 CA1832295 |
287 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751739291 CA1832297 |
288 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 288 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1832298 rs755124371 |
290 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1832299 rs781546793 |
291 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1832300 rs377223360 |
292 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1832302 rs143054830 |
296 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1832304 rs771524950 |
299 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1832305 rs779504911 |
299 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348240522 rs1445199194 |
300 | L>P | No |
ClinGen TOPMed |
|
|
CA1832306 rs746584444 |
301 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 302 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1832308 rs776356710 |
302 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348240563 rs1291077878 |
303 | I>M | No |
ClinGen TOPMed |
|
|
CA1832310 rs758215345 |
304 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1832311 rs773234250 |
304 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934920736 CA53592880 |
306 | S>N | No |
ClinGen gnomAD |
|
|
CA53592902 rs865986508 |
306 | S>R | No |
ClinGen Ensembl |
|
|
rs1329225156 CA348240614 |
308 | G>S | No |
ClinGen TOPMed |
|
|
rs762962840 CA1832312 |
309 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 310 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766460494 CA1832313 |
310 | G>R | No |
ClinGen ExAC TOPMed |
|
|
CA348241977 rs1381537461 |
313 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1321574212 CA348241981 |
314 | P>S | No |
ClinGen TOPMed |
|
|
COSM1398821 CA53594924 rs200867510 |
315 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs774444715 CA1832332 |
315 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348242058 rs1320952249 |
318 | T>I | No |
ClinGen gnomAD |
|
|
CA53594936 rs1010797971 |
319 | V>A | No |
ClinGen TOPMed |
|
|
CA1832336 rs760933172 |
320 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs527246135 CA1832335 |
320 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1832337 rs764363911 |
321 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1239878861 CA348242110 |
321 | H>Y | No |
ClinGen gnomAD |
|
|
rs757629241 CA53594963 |
322 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA1832339 rs757629241 |
322 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1832338 rs142679658 |
322 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750968814 CA1832341 |
323 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1832340 rs765663447 |
323 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348242174 rs1244465943 |
325 | G>A | No |
ClinGen TOPMed |
|
|
rs1005811034 CA53594981 |
325 | G>R | No |
ClinGen Ensembl |
|
|
CA348242179 rs1202309827 |
326 | L>M | No |
ClinGen TOPMed |
|
|
rs780729915 CA1832343 |
327 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1832345 rs755825648 |
328 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA348242337 rs1290008877 |
333 | F>C | No |
ClinGen gnomAD |
|
|
CA348242361 rs774393619 |
335 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1832349 rs774393619 |
335 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA348242359 rs774393619 |
335 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1832350 rs745843973 |
335 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1313503347 CA348242381 |
336 | V>L | No |
ClinGen gnomAD |
|
|
CA348242420 rs1255008923 |
337 | E>A | No |
ClinGen gnomAD |
|
|
CA348242403 rs1344718119 |
337 | E>K | No |
ClinGen TOPMed |
|
|
rs115636351 CA1832352 |
338 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150663837 CA1832355 |
339 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281171476 CA348242510 |
341 | R>K | No |
ClinGen Ensembl |
|
|
CA348242542 rs1176044388 |
342 | V>G | No |
ClinGen gnomAD |
|
|
rs750801617 CA1832358 |
343 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA1832359 rs758907556 |
343 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750801617 CA348242549 |
343 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs747021405 CA1832372 |
345 | G>S | No |
ClinGen ExAC |
|
|
rs1351484357 CA348242957 |
345 | G>V | No |
ClinGen gnomAD |
|
|
rs776783372 CA1832374 |
347 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348243003 rs1384273488 |
348 | H>Y | No |
ClinGen TOPMed |
|
|
CA348243025 rs1368219735 |
349 | L>V | No |
ClinGen gnomAD |
|
|
CA348243050 rs1230128913 |
350 | A>T | No |
ClinGen gnomAD |
|
|
rs1011637846 CA53596052 |
351 | V>F | No |
ClinGen Ensembl |
|
|
rs1011637846 COSM1527752 CA348243073 |
351 | V>I | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA1832377 rs187520941 |
352 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761998812 CA1832376 COSM569415 |
352 | V>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1573713138 CA348243126 |
353 | L>P | No |
ClinGen Ensembl |
|
|
CA348243193 rs1452627804 |
356 | I>V | No |
ClinGen gnomAD |
|
|
CA348243296 rs1221567422 |
359 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773621829 CA1832378 |
361 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs766853483 CA1832380 |
362 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs763285382 CA1832379 |
362 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1832381 rs752015012 |
363 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA1832383 rs760225430 COSM1564858 |
363 | S>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs760225430 CA1832382 |
363 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1832385 rs756943270 |
364 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs370938750 CA1832386 |
366 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370938750 CA53596094 |
366 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA53596121 rs985361975 |
368 | F>L | No |
ClinGen TOPMed |
|
|
CA1832387 rs750171152 |
368 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758160201 CA1832408 |
369 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA348246427 rs1480958440 |
369 | I>V | No |
ClinGen gnomAD |
|
|
rs1260202632 CA348246479 |
371 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA348246471 rs1229615951 |
371 | I>V | No |
ClinGen gnomAD |
|
|
CA1832409 rs199767860 |
375 | Q>E | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1558845990 CA348246593 |
377 | M>V | No |
ClinGen Ensembl |
|
|
rs371874304 CA1832410 |
381 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1832411 rs754904104 |
385 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs781164169 CA1832412 |
387 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781164169 CA348246889 |
387 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM1669217 rs1473530535 CA348246933 |
388 | K>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA1832414 CA348247013 rs748168448 |
391 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1832413 rs768440670 |
392 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893703147 CA53598932 |
392 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1832416 rs778018002 |
393 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348247052 rs1558846047 |
393 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 394 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771237316 CA1832418 |
395 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA1832419 rs774828905 COSM3787839 |
395 | F>L | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1054220889 CA53598947 |
399 | L>M | No |
ClinGen Ensembl |
|
| TCGA novel | 399 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA53598965 rs776055662 |
403 | V>E | No |
ClinGen gnomAD |
|
|
rs1299173891 CA348247291 |
403 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 405 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348247424 rs1277265427 |
407 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs139530431 CA1832432 |
407 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1832431 rs751342609 COSM347212 |
407 | I>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1832433 rs767376110 |
408 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA348247480 rs1305568019 |
409 | F>L | No |
ClinGen gnomAD |
|
|
rs146764626 CA1832434 |
411 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777695505 CA1832436 |
412 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756171357 CA1832435 |
412 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227832823 CA348247579 |
413 | T>A | No |
ClinGen gnomAD |
|
|
CA1832437 rs749428628 |
414 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757419278 CA1832438 |
414 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757419278 CA348247611 |
414 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348247630 rs1211621600 |
415 | K>E | No |
ClinGen gnomAD |
|
|
rs1253052919 CA348247749 |
418 | R>I | No |
ClinGen gnomAD |
|
|
CA348247760 rs1467669117 |
418 | R>S | No |
ClinGen gnomAD |
|
|
rs1191237816 CA348247792 |
420 | A>G | No |
ClinGen gnomAD |
|
|
rs1277457525 CA348247785 |
420 | A>T | No |
ClinGen TOPMed |
|
|
CA1832439 rs779340805 |
421 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1832440 rs746163949 |
422 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs772593501 CA1832441 |
423 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs769257673 CA1832444 |
423 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
COSM475771 CA348247868 rs772593501 |
423 | Q>K | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs776088450 CA1832443 |
423 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA1832442 rs776088450 |
423 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1354665313 CA348248240 |
425 | D>G | No |
ClinGen gnomAD |
|
|
CA348248232 rs1293690717 |
425 | D>Y | No |
ClinGen gnomAD |
|
|
rs770449584 CA1832466 |
427 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1832467 COSM1005488 rs780710696 |
429 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759155547 CA1832468 |
429 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372086075 CA53599713 |
430 | W>C | No |
ClinGen ESP |
|
|
rs1258541206 CA348248433 |
431 | V>D | No |
ClinGen gnomAD |
|
|
CA348248427 rs1214594959 |
431 | V>L | No |
ClinGen gnomAD |
|
|
CA348248448 COSM285821 rs1428988313 |
433 | D>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA348248471 rs1257270067 |
434 | A>V | No |
ClinGen gnomAD |
|
|
CA348248493 rs1185030811 |
436 | W>R | No |
ClinGen gnomAD |
|
|
rs1408763754 CA348248512 |
437 | S>G | No |
ClinGen gnomAD |
|
|
rs552454794 CA1832472 |
437 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769088454 CA1832474 |
441 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769088454 CA1832473 |
441 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1558847007 CA348248625 |
443 | I>F | No |
ClinGen Ensembl |
|
|
CA1832475 rs761947233 |
444 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1435576718 CA348248654 |
445 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA348248690 rs1366901661 |
448 | M>V | No |
ClinGen gnomAD |
|
|
rs202204765 CA53599754 |
450 | L>F | No |
ClinGen Ensembl |
|
|
CA53599749 rs201197357 |
450 | L>S | No |
ClinGen Ensembl |
|
|
rs1374685819 CA348248786 |
453 | P>T | No |
ClinGen gnomAD |
|
|
rs578002547 CA1832477 |
454 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1290182688 CA348248801 |
454 | S>A | No |
ClinGen gnomAD |
|
|
CA53599774 rs377015995 |
455 | A>T | No |
ClinGen ESP TOPMed |
|
|
CA348248822 rs1558847046 |
455 | A>V | No |
ClinGen Ensembl |
|
|
VAR_078997 rs369634007 CA354903 RCV000208660 |
456 | N>D | found in restrictive cardiomyopathy; unknown pathological significance [UniProt] | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs374409706 CA53599779 |
456 | N>S | No |
ClinGen ESP |
|
|
rs140815342 CA1832480 |
458 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755257040 CA1832500 |
459 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 460 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1832501 rs147794240 |
461 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1013978310 CA53601083 |
461 | A>T | No |
ClinGen TOPMed |
|
|
rs147794240 CA53601091 |
461 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756597418 CA1832503 |
463 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA53601102 rs866733433 |
464 | P>S | No |
ClinGen gnomAD |
|
|
COSM146025 rs778315618 CA1832504 |
466 | I>V | lung Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1023890882 CA53601145 |
468 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA348249451 rs1023890882 |
468 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs745307346 CA1832505 |
471 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs779537220 CA1832507 |
472 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA348249500 rs1339183491 |
475 | E>K | No |
ClinGen gnomAD |
|
|
CA1832509 rs768246405 |
477 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1832508 rs746645396 |
477 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA348249540 rs1415117062 COSM714748 |
480 | S>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA1832510 rs776476693 |
481 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348249560 rs1157069138 CA348249558 |
483 | L>* | No |
ClinGen TOPMed |
|
|
rs747894939 CA1832533 |
484 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA348251732 rs1315159128 |
485 | E>A | No |
ClinGen gnomAD |
|
|
CA1832535 rs773244105 |
485 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1832536 rs749206206 |
487 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1414668449 CA348251798 |
488 | K>T | No |
ClinGen gnomAD |
|
|
rs201299749 CA1832539 |
489 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53604550 rs939804994 |
492 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs767709842 CA348251979 |
495 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767709842 CA1832541 |
495 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348252010 rs1456003353 |
496 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1832542 rs181008368 |
497 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs76206645 CA1832543 |
501 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA53604583 rs868413197 |
503 | A>T | No |
ClinGen Ensembl |
|
|
rs146930856 CA1832546 |
506 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs112910751 CA53604595 |
507 | N>S | No |
ClinGen Ensembl |
|
|
CA1832547 rs754253658 |
508 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 510 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778716731 CA1832560 |
510 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs745900947 CA1832561 |
512 | L>F | No |
ClinGen ExAC |
|
|
CA348252607 rs1338035800 |
512 | L>S | No |
ClinGen TOPMed |
|
|
CA348252635 rs1004518539 |
514 | W>* | No |
ClinGen gnomAD |
|
|
CA53605846 rs1004518539 |
514 | W>C | No |
ClinGen gnomAD |
|
|
CA348252644 rs1341370471 |
515 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs772062999 CA1832562 |
518 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA348252683 rs1456102401 |
518 | N>S | No |
ClinGen gnomAD |
|
|
CA1832563 rs775590393 |
519 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA53605861 rs1014612485 |
520 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs867923191 CA53605867 |
520 | P>L | No |
ClinGen gnomAD |
|
|
CA348252701 rs1014612485 |
520 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1832566 rs776978333 |
521 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53605891 rs752665160 |
522 | S>L | No |
ClinGen Ensembl |
|
|
CA348252748 rs1450293077 |
525 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 525 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1832567 rs762089820 |
526 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1832568 rs762089820 |
526 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374152118 CA1832586 |
527 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1176380513 CA348252860 |
536 | E>K | No |
ClinGen TOPMed |
|
|
CA1832614 rs771497448 |
539 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1257379002 CA348252904 |
540 | T>I | No |
ClinGen gnomAD |
|
|
rs775008767 CA1832615 |
542 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1832616 rs760211204 |
543 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1408898784 CA348252928 |
544 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA53608715 rs148356003 |
546 | E>A | No |
ClinGen ESP |
|
|
rs763724238 CA1832618 |
546 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1832619 rs776240907 |
548 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1832620 rs150860328 |
549 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1313266907 CA348252969 |
550 | S>P | No |
ClinGen gnomAD |
|
|
CA348252982 rs1358447824 |
552 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA348252984 rs1573734956 |
552 | E>G | No |
ClinGen Ensembl |
|
|
CA1832621 rs765011904 |
554 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750122283 CA1832622 |
555 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q96K49
1 regional properties for Q96K49
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Chromosome segregation in meiosis protein 3 | 73 - 152 | IPR012923 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| retrograde transport, endosome to Golgi | The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8NBN3 | TMEM87A | Transmembrane protein 87A | Homo sapiens (Human) | PR |
| Q8BXN9 | Tmem87a | Transmembrane protein 87A | Mus musculus (Mouse) | PR |
| Q8BKU8 | Tmem87b | Transmembrane protein 87B | Mus musculus (Mouse) | PR |
| Q28EW0 | tmem87a | Transmembrane protein 87A | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVAACRSVAG | LLPRRRRCFP | ARAPLLRVAL | CLLCWTPAAV | RAVPELGLWL | ETVNDKSGPL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IFRKTMFNST | DIKLSVKSFH | CSGPVKFTIV | WHLKYHTCHN | EHSNLEELFQ | KHKLSVDEDF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CHYLKNDNCW | TTKNENLDCN | SDSQVFPSLN | NKELINIRNV | SNQERSMDVV | ARTQKDGFHI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FIVSIKTENT | DASWNLNVSL | SMIGPHGYIS | ASDWPLMIFY | MVMCIVYILY | GILWLTWSAC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YWKDILRIQF | WIAAVIFLGM | LEKAVFYSEY | QNISNTGLST | QGLLIFAELI | SAIKRTLARL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LVIIVSLGYG | IVKPRLGTVM | HRVIGLGLLY | LIFAAVEGVM | RVIGGSNHLA | VVLDDIILAV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IDSIFVWFIF | ISLAQTMKTL | RLRKNTVKFS | LYRHFKNTLI | FAVLASIVFM | GWTTKTFRIA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KCQSDWMERW | VDDAFWSFLF | SLILIVIMFL | WRPSANNQRY | AFMPLIDDSD | DEIEEFMVTS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ENLTEGIKLR | ASKSVSNGTA | KPATSENFDE | DLKWVEENIP | SSFTDVALPV | LVDSDEEIMT |
| 550 | |||||
| RSEMAEKMFS | SEKIM |