Q9BZ67
PR
Gene name |
FRMD8 (FKSG44) |
Protein name |
FERM domain-containing protein 8 |
Names |
Band4.1 inhibitor LRP interactor, Bili, iRhom tail-associated protein, iTAP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83786 |
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 Q9BZ67
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BZ67-F1 | Predicted | AlphaFoldDB |
440 variants for Q9BZ67
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1210185088 CA381256448 |
2 | D>G | No |
ClinGen TOPMed |
|
|
CA381256451 rs1317743332 |
3 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6096140 rs748292470 |
4 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381256460 rs748292470 |
4 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 5 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6096142 rs773463027 |
6 | G>V | No |
ClinGen ExAC gnomAD |
|
|
COSM544536 rs759320847 CA6096143 |
7 | S>I | lung Variant assessed as Somatic; 5.215e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
TCGA novel rs759320847 CA6096144 |
7 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA381256486 rs1262590172 |
8 | A>V | No |
ClinGen gnomAD |
|
|
rs1191829891 CA381256492 |
9 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 10 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762807697 CA6096146 |
11 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA381256508 rs1456279395 |
12 | G>D | No |
ClinGen gnomAD |
|
|
rs529596076 CA6096148 |
12 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1385095612 CA381256517 |
14 | A>T | No |
ClinGen gnomAD |
|
|
rs767050401 CA6096150 |
16 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA381256533 rs1339399533 |
16 | R>P | No |
ClinGen gnomAD |
|
|
rs78688868 CA6096151 |
18 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs78688868 CA6096152 |
18 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569323385 CA6096154 |
19 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381256567 rs779522359 |
22 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6096156 rs779522359 |
22 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6096157 rs748144632 |
23 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6096159 rs752740201 |
24 | S>P* | No |
ClinGen ExAC |
|
|
rs772259371 CA6096160 |
27 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1359041051 CA381256600 |
28 | R>G | No |
ClinGen TOPMed |
|
|
CA6096162 rs749329031 |
28 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs371301297 CA6096199 |
29 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6096203 rs117981233 |
30 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 31 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381256874 rs1257382495 |
31 | D>H | No |
ClinGen gnomAD |
|
|
rs202099122 CA6096205 |
32 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1565596376 CA381256898 |
35 | Y>H | No |
ClinGen Ensembl |
|
|
CA223957705 rs953592802 |
36 | L>P | No |
ClinGen TOPMed |
|
|
rs1477408717 CA381256912 |
37 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6096207 rs150775592 |
37 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381256930 rs1477062931 |
39 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs200245458 CA6096209 |
40 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170326258 CA381256933 |
40 | T>P | No |
ClinGen gnomAD |
|
|
CA6096211 rs190868663 |
42 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381256948 rs190868663 |
42 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199675557 CA223957710 |
43 | P>L | No |
ClinGen 1000Genomes |
|
|
rs763354731 CA6096214 |
49 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs764550211 CA6096216 |
51 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11552893 CA223957714 |
51 | S>T | No |
ClinGen Ensembl |
|
|
rs1565596478 CA381257007 |
52 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 52 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757317982 CA6096218 |
54 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 54 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767579526 CA6096219 |
55 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381257029 rs1565596519 |
56 | E>Q | No |
ClinGen Ensembl |
|
|
CA381257039 rs780162209 |
57 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6096222 rs780162209 |
57 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 58 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381257042 rs1238479941 |
58 | H>Y | No |
ClinGen gnomAD |
|
|
CA6096223 rs768757210 |
59 | R>C | Variant assessed as Somatic; 5.445e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1355936 rs758310158 CA6096224 |
59 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA381257051 rs758310158 |
59 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746885699 CA6096226 |
60 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs576827620 CA6096227 |
61 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs373521065 CA6096228 |
62 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6096229 rs745388067 |
62 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449890306 CA381257067 |
63 | E>Q | No |
ClinGen gnomAD |
|
|
CA6096231 rs775042781 |
68 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA223957730 rs975982203 |
69 | D>V | No |
ClinGen Ensembl |
|
|
rs769069315 CA381257119 |
71 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769069315 CA6096233 |
71 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs140843850 CA223957734 |
73 | D>G | No |
ClinGen ESP gnomAD |
|
|
CA381257130 rs1350855268 |
73 | D>N | No |
ClinGen gnomAD |
|
|
CA381257137 rs1226352904 |
74 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs201594600 CA223957736 |
74 | V>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1185819534 CA381257148 |
76 | A>T | No |
ClinGen gnomAD |
|
|
CA223957738 rs931788549 |
76 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6096236 rs767941954 |
77 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173430310 CA381257164 |
78 | W>* | No |
ClinGen gnomAD |
|
|
CA381257161 rs1419141709 |
78 | W>* | No |
ClinGen gnomAD |
|
|
CA381257168 rs1404561949 |
79 | L>V | No |
ClinGen gnomAD |
|
|
rs1415962766 CA381257175 |
80 | V>D | No |
ClinGen gnomAD |
|
|
CA381257177 rs1415962766 |
80 | V>G | No |
ClinGen gnomAD |
|
|
CA6096238 rs760718536 |
81 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs766594002 CA6096239 |
82 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs773633810 CA6096257 |
86 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6096259 rs766310880 |
87 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA381257228 rs912079217 |
87 | Q>P | No |
ClinGen TOPMed |
|
|
CA223958565 rs912079217 |
87 | Q>R | No |
ClinGen TOPMed |
|
|
CA381257243 rs1590649949 |
89 | K>N | No |
ClinGen Ensembl |
|
|
rs1421416642 CA381257250 |
90 | P>L | No |
ClinGen gnomAD |
|
|
rs1392336918 CA381257276 |
94 | P>A | No |
ClinGen gnomAD |
|
|
CA381257277 rs1392336918 |
94 | P>S | No |
ClinGen gnomAD |
|
|
rs765575132 CA6096262 |
96 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3687517 CA6096263 rs149665891 |
99 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs145529099 CA6096264 |
99 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381257310 rs145529099 |
99 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 101 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148847151 CA6096265 |
102 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1246256971 CA381257339 |
103 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1478411325 CA381257334 |
103 | E>Q | No |
ClinGen TOPMed |
|
|
rs756093422 CA6096267 |
107 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6096268 rs779476479 |
107 | R>H | Variant assessed as Somatic; 6.132e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1258369730 CA381257362 |
108 | F>L | No |
ClinGen TOPMed |
|
|
CA381257370 rs1590650035 |
109 | T>P | No |
ClinGen Ensembl |
|
|
rs2073800 CA6096271 |
113 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6096269 rs748830876 |
113 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1298419 rs1270578962 CA381257400 |
114 | D>N | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6096272 rs567204054 |
114 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1165464969 CA381257415 |
116 | V>M | No |
ClinGen gnomAD |
|
|
CA6096275 rs747406475 |
117 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs771500950 CA6096276 |
118 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1360582964 CA381257434 |
119 | D>H | No |
ClinGen gnomAD |
|
|
rs1590650451 CA381257471 |
122 | F>S | No |
ClinGen Ensembl |
|
|
rs1441008308 CA381257497 |
126 | R>* | No |
ClinGen gnomAD |
|
|
COSM415449 rs368973734 CA6096295 |
126 | R>Q | lung Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6096296 rs745936198 |
127 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6096297 rs770054603 |
128 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1404445074 CA381257517 |
129 | V>G | No |
ClinGen gnomAD |
|
|
CA6096299 rs763022167 |
129 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs545455000 CA6096300 |
130 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760568242 CA6096302 |
134 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760568242 CA381257548 |
134 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6096301 rs772838434 |
134 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6096304 rs753841492 |
135 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766273759 CA6096303 |
135 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223958657 rs1034607222 |
136 | E>G | No |
ClinGen Ensembl |
|
|
rs1590650518 CA381257553 |
136 | E>K | No |
ClinGen Ensembl |
|
|
CA6096320 rs774674530 |
139 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381257595 rs1474625319 |
140 | H>R | No |
ClinGen gnomAD |
|
|
CA381257599 rs1167860943 |
141 | D>N | No |
ClinGen gnomAD |
|
|
CA6096322 rs61763056 |
142 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6096323 rs776426148 |
143 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA381257620 rs1365013834 |
143 | E>D | No |
ClinGen gnomAD |
|
|
CA381257621 rs1400882695 |
144 | V>I | No |
ClinGen gnomAD |
|
|
rs759427261 CA6096324 |
145 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6096325 rs765180532 |
146 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381257632 rs1328038776 |
146 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752125591 CA6096326 |
149 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6096327 rs762560680 |
149 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381257666 rs1247557625 CA381257667 |
151 | E>D | No |
ClinGen gnomAD |
|
|
rs1289016072 CA381257671 |
152 | A>D | No |
ClinGen gnomAD |
|
|
rs1358107120 CA381257679 |
153 | K>M | No |
ClinGen gnomAD |
|
|
CA6096328 rs763645283 |
154 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331814108 CA381257698 |
156 | V>A | No |
ClinGen TOPMed |
|
|
CA6096330 rs199778555 |
156 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1474087429 CA381257716 |
159 | A>V | No |
ClinGen gnomAD |
|
|
CA381257718 rs1384757947 |
160 | R>Q | No |
ClinGen gnomAD |
|
|
rs201583477 CA6096331 |
160 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223958700 rs1049110052 |
162 | P>A | No |
ClinGen gnomAD |
|
|
CA6096333 rs756643091 |
162 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457957381 CA381257735 |
163 | C>R | No |
ClinGen TOPMed |
|
|
CA381257736 rs1317307627 |
163 | C>Y | No |
ClinGen gnomAD |
|
|
rs768848891 CA6096336 |
164 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1381425385 CA381257750 |
165 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1381425385 CA381257749 |
165 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6096338 rs748313521 |
167 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 167 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280961572 CA381257770 |
168 | C>R | No |
ClinGen gnomAD |
|
|
rs776360172 CA6096340 |
169 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776360172 CA381257778 |
169 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1050568221 CA223958709 |
170 | A>V | No |
ClinGen Ensembl |
|
|
CA381257792 rs1279832700 |
171 | L>P | No |
ClinGen gnomAD |
|
|
CA381257796 rs1202391878 |
172 | G>D | No |
ClinGen gnomAD |
|
|
CA6096341 rs745710210 |
172 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6096344 rs775560249 |
173 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6096343 rs775560249 |
173 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381257802 rs1180541499 |
173 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6096347 rs370378943 |
175 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1425684591 CA381257815 |
176 | C>G | No |
ClinGen gnomAD |
|
|
rs565617626 CA6096348 |
177 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6096349 rs150610909 |
177 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381257825 rs138687453 |
178 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138687453 CA6096351 |
178 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381257830 rs534759478 |
179 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534759478 CA6096352 |
179 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381257839 rs1237965851 |
180 | L>F | No |
ClinGen gnomAD |
|
|
CA381257854 rs1326117980 |
182 | P>L | No |
ClinGen gnomAD |
|
|
CA381257851 rs1275059819 |
182 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA381257859 rs1590650951 |
183 | Y>S | No |
ClinGen Ensembl |
|
|
rs754427699 CA6096353 |
184 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA381257877 rs778986888 |
186 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381257876 rs778986888 |
186 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778986888 CA6096356 |
186 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574296783 CA6096358 |
187 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199560325 CA6096357 |
187 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6096359 rs189266113 |
188 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1437304482 CA381257884 |
188 | P>S | No |
ClinGen gnomAD |
|
|
CA381257894 rs1481315538 |
189 | A>V | No |
ClinGen gnomAD |
|
|
CA223958727 rs951853340 |
190 | A>T | No |
ClinGen gnomAD |
|
|
CA381257902 rs1428312434 |
191 | C>G | No |
ClinGen gnomAD |
|
|
rs1035070334 CA223958730 |
192 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1035070334 CA381257908 |
192 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs775157644 CA6096362 |
194 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs775157644 CA381257923 |
194 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs779856259 CA381257939 |
194 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749062019 CA6096381 |
195 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA381257943 rs1162546255 |
195 | E>G | No |
ClinGen gnomAD |
|
|
rs749062019 CA381257940 |
195 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs779034385 CA6096383 |
197 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA381257965 rs772865648 |
198 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17854692 CA223961457 |
198 | D>N | No |
ClinGen Ensembl |
|
|
CA6096387 rs368532476 |
199 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1245252960 CA381257972 |
200 | F>L | No |
ClinGen gnomAD |
|
|
rs1310301363 CA381257981 |
201 | L>F | No |
ClinGen gnomAD |
|
|
rs1213881430 CA381257993 |
203 | A>S | No |
ClinGen gnomAD |
|
|
rs1590652929 CA381258000 |
204 | H>P | No |
ClinGen Ensembl |
|
|
rs777028796 CA6096389 |
204 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765724905 CA6096391 |
206 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6096395 rs764093593 |
208 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1207547 rs764093593 CA6096394 |
208 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6096393 rs763464459 |
208 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1156488720 CA381258030 |
209 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA381258027 rs1420546781 |
209 | G>S | No |
ClinGen gnomAD |
|
|
rs1314847488 CA381258051 |
212 | L>V | No |
ClinGen TOPMed |
|
|
CA6096396 rs757454258 |
213 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA381258067 rs1470475238 |
214 | A>V | No |
ClinGen gnomAD |
|
|
CA381258081 rs992966107 |
217 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA223961496 rs992966107 |
217 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA223961488 rs149382757 |
217 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6096398 rs146317650 |
218 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6096399 rs146317650 |
218 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA223961502 rs917229317 |
219 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs772001830 CA6096400 |
219 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6096402 rs748044680 |
220 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs748044680 CA381258094 |
220 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 220 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6096403 rs772143553 |
221 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA223961510 rs1007023110 |
221 | A>V | No |
ClinGen Ensembl |
|
|
rs900238342 CA223961514 |
224 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs375440872 CA6096405 |
225 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381258122 rs375440872 |
225 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759928368 CA6096408 |
227 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6096409 rs770085917 |
229 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223961527 rs763409317 |
232 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381258163 rs1292490148 |
232 | N>S | No |
ClinGen Ensembl |
|
|
rs929031834 CA223961530 |
233 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA223961531 rs369836723 |
234 | Y>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6096414 rs761840200 |
235 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs746453341 CA6096415 |
235 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1321142675 CA381258192 |
237 | V>L | No |
ClinGen gnomAD |
|
|
rs963098418 CA223961534 |
239 | E>K | No |
ClinGen gnomAD |
|
|
rs539950410 CA223961537 |
240 | V>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs539950410 CA381258211 |
240 | V>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs376427278 CA381258220 |
241 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs376427278 CA381258219 |
241 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs376427278 CA223961540 |
241 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1303732176 CA381258224 |
242 | S>G | No |
ClinGen gnomAD |
|
|
rs199812480 CA6096418 |
243 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs186475050 CA6096420 |
244 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381258244 rs1590653139 |
245 | G>E | No |
ClinGen Ensembl |
|
|
CA6096422 rs562393260 CA6096423 |
245 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531135440 CA381258253 |
246 | C>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381258249 rs1169894150 |
246 | C>G | No |
ClinGen gnomAD |
|
|
CA381258247 rs1169894150 |
246 | C>S | No |
ClinGen gnomAD |
|
|
rs745445330 CA6096425 |
247 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769467705 CA6096426 |
248 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381258267 rs749703966 |
249 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749703966 CA6096428 |
249 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203239648 CA381258301 |
254 | Y>C | No |
ClinGen TOPMed |
|
|
rs774787597 CA6096430 |
255 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381258305 rs774787597 |
255 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761939885 CA6096431 |
255 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774787597 CA381258306 |
255 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539899484 CA6096432 |
256 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773349947 CA6096433 |
257 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA381258315 rs1289061916 |
257 | Y>H | No |
ClinGen gnomAD |
|
|
rs760942853 CA6096434 |
258 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA381258356 rs893281745 |
263 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA223961592 rs893281745 |
263 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA223961593 rs947555369 |
265 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 266 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 267 | Y>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777048604 CA6096453 |
271 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA381258795 rs1468435147 |
272 | F>V | No |
ClinGen gnomAD |
|
|
rs759847556 CA6096455 |
274 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139960411 CA6096457 |
277 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 277 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1034624381 CA223962712 |
278 | K>E | No |
ClinGen TOPMed |
|
|
CA6096458 rs376649188 |
278 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6096460 rs142081480 |
279 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6096459 rs371187621 |
279 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1408817252 CA381258846 |
280 | A>T | No |
ClinGen gnomAD |
|
|
rs779668890 CA6096462 |
283 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6096463 rs753431228 |
286 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381258889 rs1222282447 |
286 | R>W | No |
ClinGen gnomAD |
|
|
rs61743659 CA6096464 |
287 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779110878 CA6096465 |
289 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6096466 rs569673889 |
289 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381258922 rs1322670655 |
292 | V>F | No |
ClinGen Ensembl |
|
|
CA6096467 rs772438407 |
293 | S>P | No |
ClinGen ExAC |
|
|
rs747069845 CA6096469 |
294 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1197201308 CA381258944 |
296 | I>V | No |
ClinGen gnomAD |
|
|
CA6096471 rs140066865 |
297 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1462074770 CA381258952 |
297 | S>N | No |
ClinGen gnomAD |
|
|
rs759790849 CA381258973 |
300 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA381258970 rs1169196966 |
300 | G>S | No |
ClinGen gnomAD |
|
|
rs759790849 CA6096472 |
300 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs770076651 CA6096473 |
301 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6096475 rs761706900 |
302 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6096474 rs773993267 |
302 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6096477 rs750421183 |
303 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753380376 CA223962772 |
305 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs772538469 CA6096479 |
305 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1294139373 CA381259005 |
306 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 307 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6096482 rs78775807 |
308 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381259024 rs1266388126 |
308 | E>V | No |
ClinGen gnomAD |
|
|
CA6096494 rs771842669 |
310 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA381259048 rs1163619671 |
310 | H>Y | No |
ClinGen gnomAD |
|
|
CA6096495 rs772996528 |
311 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 315 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766330799 CA6096497 |
315 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA381259081 rs1333440318 |
316 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA223963178 rs147081910 |
316 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs970834704 COSM1298420 CA223963180 |
321 | S>L | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA6096499 rs759129401 |
324 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs569914571 CA223963187 |
326 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6096500 rs569914571 |
326 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569914571 CA381259151 |
326 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757987706 CA6096502 COSM3935573 |
328 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA381259177 rs1257349404 |
330 | E>V | No |
ClinGen TOPMed |
|
|
rs1266188148 CA381259195 |
333 | I>L | No |
ClinGen gnomAD |
|
|
CA381259200 rs1204186582 |
333 | I>M | No |
ClinGen gnomAD |
|
|
CA6096503 rs764509853 |
333 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266188148 CA381259196 |
333 | I>V | No |
ClinGen gnomAD |
|
|
CA381259204 rs1481957533 |
334 | L>S | No |
ClinGen gnomAD |
|
|
CA381259219 rs1565607910 |
336 | L>R | No |
ClinGen Ensembl |
|
|
rs201286788 CA6096505 |
337 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6096506 rs781774213 |
338 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs780013767 CA6096509 |
339 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs756277376 CA6096508 |
339 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756277376 CA223963211 |
339 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145735901 CA6096511 |
340 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772945431 CA6096512 |
340 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA223963222 rs145735901 |
340 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6096513 rs541167364 |
341 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6096514 rs770827462 |
342 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs373329806 CA6096516 |
342 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6096517 rs764735918 |
343 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1342232949 CA381259274 |
345 | T>I | No |
ClinGen TOPMed |
|
|
rs1326270783 CA381259285 |
347 | V>A | No |
ClinGen TOPMed |
|
|
CA223963244 rs1051467527 |
347 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA223963250 rs919177206 |
351 | L>F | No |
ClinGen Ensembl |
|
|
rs1565608091 CA381259314 |
352 | K>Q | No |
ClinGen Ensembl |
|
|
CA381259339 rs1309966978 |
355 | S>T | No |
ClinGen gnomAD |
|
|
CA381259355 rs1208758524 |
357 | Q>R | No |
ClinGen gnomAD |
|
|
rs766848074 CA6096545 |
359 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381259388 rs1296439171 |
360 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA223964785 rs956341588 |
361 | M>I | No |
ClinGen gnomAD |
|
|
CA223964789 rs988928486 |
365 | I>T | No |
ClinGen gnomAD |
|
|
rs1277559397 CA381259421 |
365 | I>V | No |
ClinGen gnomAD |
|
|
CA381259426 rs1590659305 |
366 | E>K | No |
ClinGen Ensembl |
|
|
rs1217148441 CA381259445 |
368 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1244297007 CA381259452 |
369 | I>V | No |
ClinGen gnomAD |
|
|
rs752846330 CA6096550 |
370 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752846330 CA6096549 |
370 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223964801 rs917210171 |
373 | Q>H | No |
ClinGen Ensembl |
|
|
rs780987499 CA381259486 |
374 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446746733 CA381259483 |
374 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA381259484 rs1446746733 |
374 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780987499 CA6096552 |
374 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs531452921 CA6096556 COSM544534 |
375 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 378 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223964828 rs145995836 |
378 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6096559 rs145995836 |
378 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774004540 CA381259527 |
381 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774004540 CA6096561 |
381 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 382 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6096562 rs761519836 |
382 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 383 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223964840 rs544911956 |
384 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6096564 rs773607506 |
384 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544911956 CA6096565 |
384 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139552682 CA381259563 |
387 | S>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs139552682 CA223964854 |
387 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 388 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6096572 rs150215273 |
389 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6096571 rs752794845 |
389 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6096573 rs150215273 |
389 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201911015 CA223964866 |
391 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381259592 rs1348084457 |
392 | S>T | No |
ClinGen TOPMed |
|
|
CA381259603 rs1406187792 |
394 | S>L | No |
ClinGen gnomAD |
|
|
CA6096575 rs755919930 |
394 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6096577 rs547400102 |
397 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199629510 CA6096578 |
400 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1384045229 CA381259638 |
400 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1442444010 CA381259643 |
401 | P>S | No |
ClinGen gnomAD |
|
|
CA381259653 rs1372052020 |
402 | K>N | No |
ClinGen TOPMed |
|
|
CA6096582 rs747711065 |
404 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6096581 rs112898225 |
404 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771727971 CA6096583 |
405 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs771727971 CA381259665 |
405 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA381259669 rs1198750529 |
406 | Q>K | No |
ClinGen gnomAD |
|
|
rs1371015280 CA381259674 |
406 | Q>L | No |
ClinGen gnomAD |
|
|
CA381259690 rs1590659504 |
408 | S>R | No |
ClinGen Ensembl |
|
|
rs1590659525 CA381259702 |
410 | V>G | No |
ClinGen Ensembl |
|
|
CA223964884 rs908790306 |
411 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs940290117 CA223964886 |
412 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777008508 CA6096587 |
413 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771146933 CA6096586 |
413 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759983266 CA6096588 |
414 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6096590 rs200005305 |
415 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6096593 rs764361244 |
419 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6096595 rs757505326 |
422 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs138836971 CA6096597 |
423 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1437864376 | 426 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746216628 CA6096625 |
426 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs377487202 CA6096598 |
426 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6096626 rs770083933 |
427 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1364534233 CA381259819 |
427 | K>R | No |
ClinGen gnomAD |
|
|
CA381259826 rs1197769800 |
428 | G>E | No |
ClinGen TOPMed |
|
|
CA6096627 rs370513658 |
431 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381259844 rs1342078897 |
431 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748135562 CA223967317 |
432 | V>L | No |
ClinGen gnomAD |
|
|
rs749717435 CA6096628 |
433 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6096629 rs769229269 |
434 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381259874 rs1265756117 |
436 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6096631 rs761995134 |
436 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772420534 CA6096632 |
437 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223967325 rs772420534 |
437 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140381125 CA223967329 |
438 | T>R | No |
ClinGen ESP TOPMed |
|
|
rs773629051 CA6096633 |
439 | S>F | No |
ClinGen ExAC |
|
|
CA381259905 rs765061540 |
441 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381259913 rs1413156608 |
442 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752555450 CA6096636 |
442 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6096637 rs368785338 |
443 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA223967336 rs56060114 |
443 | R>W | No |
ClinGen Ensembl |
|
|
CA6096638 rs764129959 |
444 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA381259930 rs1319426883 |
446 | S>P | No |
ClinGen TOPMed |
|
|
rs560062938 CA6096641 |
447 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756817486 CA6096640 |
447 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA223967343 rs1035432938 |
449 | Q>* | No |
ClinGen TOPMed |
|
|
rs750010237 CA6096642 |
449 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA381259957 rs1311818663 |
450 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs755793705 CA6096643 |
453 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA381259979 rs1230160763 |
454 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA223967350 rs771542952 |
456 | Q>* | No |
ClinGen gnomAD |
|
|
CA6096646 rs780232791 |
457 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6096649 rs779542647 |
458 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6096651 rs772223375 |
459 | D>E | No |
ClinGen ExAC TOPMed |
|
|
rs373778482 CA6096652 |
461 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868404602 CA381260039 |
463 | Q>L | No |
ClinGen gnomAD |
|
|
rs868404602 CA223967360 |
463 | Q>R | No |
ClinGen gnomAD |
No associated diseases with Q9BZ67
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| centriolar satellite | A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of canonical Wnt signaling pathway | Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| positive regulation of tumor necrosis factor production | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDGTEGSAGQ | PGPAERSHRS | SVSSVGARAA | DVLVYLADDT | VVPLAVENLP | SLSAHELHRA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VREVLQLPDI | ALDVFALWLV | SPLLEVQLKP | KHQPYKLGRQ | WPELLLRFTS | APDDDVAMDE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PFLQFRRNVF | FPKRRELQIH | DEEVLRLLYE | EAKGNVLAAR | YPCDVEDCEA | LGALVCRVQL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GPYQPGRPAA | CDLREKLDSF | LPAHLCKRGQ | SLFAALRGRG | ARAGPGEQGL | LNAYRQVQEV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SSDGGCEAAL | GTHYRAYLLK | CHELPFYGCA | FFHGEVDKPA | QGFLHRGGRK | PVSVAISLEG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VHVIDSREKH | VLLGLRFQEL | SWDHTSPEEE | EPILWLEFDG | DSEGTPVNKL | LKIYSKQAEL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MSSLIEYCIE | LSQAAEPAGP | QDSATGSPSD | PSSSLAPVQR | PKLRRQGSVV | SSRIQHLSTI |
| 430 | 440 | 450 | 460 | ||
| DYVEDGKGIR | RVKPKRTTSF | FSRQLSLGQG | SYTVVQPGDS | LEQG |