Q6ZWB6
PR
Gene name |
KCTD8 |
Protein name |
BTB/POZ domain-containing protein KCTD8 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:386617 |
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
2 structures for Q6ZWB6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6G57 | X-ray | 280 A | A/B/C/D | 201-322 | PDB |
| AF-Q6ZWB6-F1 | Predicted | AlphaFoldDB |
448 variants for Q6ZWB6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA356795704 rs1322891448 |
2 | A>S | No |
ClinGen TOPMed |
|
|
CA356795684 rs1338603412 |
5 | D>G | No |
ClinGen gnomAD |
|
|
rs1047093237 CA96497810 |
5 | D>N | No |
ClinGen Ensembl |
|
|
CA356795683 rs1338603412 |
5 | D>V | No |
ClinGen gnomAD |
|
|
rs753414631 CA2904842 |
6 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753414631 CA96497809 |
6 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779527314 CA2904841 |
7 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA356795675 rs1304771338 |
7 | G>S | No |
ClinGen gnomAD |
|
|
rs542891810 CA2904840 |
8 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs575851369 CA2904838 |
10 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575851369 CA2904839 |
10 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2904837 rs563828100 |
12 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs751345196 CA356795635 |
13 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1411095211 CA356795640 |
13 | I>V | No |
ClinGen gnomAD |
|
|
CA356795604 rs762974785 |
18 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs762974785 CA2904834 |
18 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2904833 rs776907766 |
19 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA96497808 rs1038040450 |
20 | V>A | No |
ClinGen Ensembl |
|
|
rs961639583 CA96497807 |
21 | S>A | No |
ClinGen TOPMed |
|
|
CA2904832 rs766578434 |
21 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760769099 CA356795579 |
22 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760769099 CA2904831 |
22 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773335254 CA356795561 |
25 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2904830 rs773335254 |
25 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227585089 CA356795563 |
25 | S>P | No |
ClinGen gnomAD |
|
|
CA356795555 rs1317159997 |
26 | P>R | No |
ClinGen gnomAD |
|
|
CA2904826 rs774774590 |
27 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs774774590 CA356795553 |
27 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs774774590 CA2904827 |
27 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA356795547 rs1347779632 |
28 | A>S | No |
ClinGen gnomAD |
|
|
CA96497806 rs868320335 |
28 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
COSM3783806 CA356795538 rs1391410575 |
30 | A>T | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA356795527 rs1425729397 |
31 | A>V | No |
ClinGen gnomAD |
|
|
rs1005714322 CA96497805 |
32 | A>S | No |
ClinGen TOPMed |
|
|
rs1387466119 CA356795522 |
32 | A>V | No |
ClinGen gnomAD |
|
|
CA356795519 rs1449406405 |
33 | A>S | No |
ClinGen gnomAD |
|
|
rs1560458036 CA356795515 |
34 | P>A | No |
ClinGen Ensembl |
|
|
CA96497804 rs889916640 |
35 | G>V | No |
ClinGen TOPMed |
|
|
CA2904820 rs745337313 |
36 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356795502 COSM321150 rs780753976 |
36 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2904818 rs780753976 |
36 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2904819 rs745337313 |
36 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751374319 CA2904816 |
37 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs751374319 CA356795501 |
37 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs763932768 CA2904815 |
38 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs763932768 CA96497803 |
38 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2904814 rs146168723 |
39 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs184972342 CA96497802 |
41 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1367371926 CA356795468 |
42 | F>L | No |
ClinGen TOPMed |
|
|
CA356795470 rs1364838061 |
42 | F>S | No |
ClinGen gnomAD |
|
|
rs1292651055 COSM40217 CA356795463 |
43 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA356795447 rs1405163752 |
45 | V>G | No |
ClinGen gnomAD |
|
|
rs998240624 CA356795419 |
50 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA96497801 rs998240624 |
50 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA96497800 rs141540654 |
52 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1211958197 CA356795407 |
52 | G>S | No |
ClinGen TOPMed |
|
|
CA356795385 rs1395811557 |
55 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs901275957 CA96497799 |
56 | V>E | No |
ClinGen TOPMed |
|
|
rs765224919 CA2904812 |
57 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2904811 rs760858977 |
58 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1249841381 CA356795350 |
60 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1249841381 CA356795351 |
60 | S>W | No |
ClinGen gnomAD |
|
|
rs1480174204 CA356795344 |
61 | T>M | No |
ClinGen gnomAD |
|
|
rs1187427845 CA356795342 |
62 | L>V | No |
ClinGen TOPMed |
|
|
CA2904809 rs767700508 |
63 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1309989541 CA356795327 |
64 | S>R | No |
ClinGen gnomAD |
|
|
rs762082756 CA2904808 |
65 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs534771289 CA2904807 |
66 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356795317 rs1347038541 |
66 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1388255165 CA356795306 |
68 | S>G | No |
ClinGen gnomAD |
|
|
rs776001183 CA2904804 |
71 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs770265841 CA2904803 |
72 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356795252 rs1335256705 |
75 | S>L | No |
ClinGen TOPMed |
|
|
CA356795246 rs1447424757 |
76 | P>L | No |
ClinGen gnomAD |
|
|
rs1435877243 CA356795249 |
76 | P>S | No |
ClinGen TOPMed |
|
|
rs746687835 CA2904798 |
77 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356795242 rs746687835 |
77 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746687835 CA2904799 |
77 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181797127 CA2904797 |
78 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA96497796 rs752490830 |
79 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418351383 CA356795232 |
79 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2904795 rs752490830 |
79 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2904796 rs752490830 |
79 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372956006 CA96497795 |
80 | R>C | No |
ClinGen ESP TOPMed |
|
|
CA2904793 rs754941222 |
80 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1262383444 CA356795219 |
82 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1262383444 CA356795220 |
82 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1325039206 CA356795213 |
83 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 83 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761736071 CA2904790 |
83 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA356795210 rs1191353556 |
84 | R>G | No |
ClinGen TOPMed |
|
|
CA2904789 rs751842712 |
84 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356795203 rs763360875 |
85 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs763360875 CA2904787 |
85 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1309613959 CA356795206 |
85 | R>S | No |
ClinGen gnomAD |
|
|
CA356795199 rs1174775411 |
86 | R>P | No |
ClinGen TOPMed |
|
|
CA2904786 rs551410926 |
86 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1454684505 CA356795192 |
87 | G>V | No |
ClinGen gnomAD |
|
|
CA2904784 rs776941842 |
89 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2904782 rs770479018 |
91 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343451442 CA356795172 |
91 | R>K | No |
ClinGen TOPMed |
|
|
rs368933267 CA2904781 |
93 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356795152 rs1421779949 |
94 | R>G | No |
ClinGen gnomAD |
|
|
CA2904780 rs777588352 |
94 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1340573191 CA356795114 |
99 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs377066294 CA356795112 |
100 | D>H | No |
ClinGen ESP TOPMed |
|
|
rs377066294 CA356795113 |
100 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs377066294 CA96497792 |
100 | D>Y | No |
ClinGen ESP TOPMed |
|
|
CA2904779 rs372659933 |
101 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2904778 rs372659933 |
101 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1462314038 COSM3696663 CA356795105 |
101 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1297524964 CA356795094 |
103 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356795079 rs1350986337 |
105 | L>F | No |
ClinGen gnomAD |
|
|
rs754671545 CA2904776 |
106 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA356795055 rs753819539 CA2904775 |
108 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs77455244 CA96497790 |
109 | V>A | No |
ClinGen Ensembl |
|
|
rs964170538 CA96497791 |
109 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA96497789 rs1016600855 |
111 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 114 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356795022 rs1363571367 |
114 | R>Q | No |
ClinGen gnomAD |
|
|
rs751619148 CA2904772 |
115 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA356795019 rs1317730112 |
115 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA96497788 rs1008308742 |
116 | K>Q | No |
ClinGen TOPMed |
|
|
rs764343485 CA2904771 |
116 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA356795001 rs370011280 |
117 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs753115913 CA2904769 |
117 | Q>P | No |
ClinGen ExAC TOPMed |
|
|
CA2904767 rs199599084 |
119 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356794992 rs199599084 |
119 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780781463 CA2904768 |
119 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs780781463 CA96497786 |
119 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA96497785 rs199599084 |
119 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2904765 rs760280100 |
120 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs760280100 CA2904764 |
120 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs138052184 CA2904762 |
121 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356794986 rs1263459958 |
121 | P>S | No |
ClinGen gnomAD |
|
|
CA2904759 rs768530413 |
122 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 122 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778642107 CA2904761 |
122 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778642107 CA2904760 |
122 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2904758 rs748990834 |
123 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228304409 CA356794970 |
124 | F>L | No |
ClinGen gnomAD |
|
|
rs1159453535 CA356794953 |
126 | E>G | No |
ClinGen Ensembl |
|
|
rs777815401 CA2904754 |
129 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA356794918 rs949124406 |
132 | R>C | No |
ClinGen gnomAD |
|
|
CA2904753 rs377247366 |
132 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs949124406 CA96497783 |
132 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs917687346 CA96497782 COSM1540389 |
134 | A>D | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs138935237 CA2904751 |
137 | F>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755392751 CA2904750 |
139 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs146302810 CA2904749 |
140 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs956366535 CA96497781 |
141 | D>H | No |
ClinGen gnomAD |
|
|
rs1032206755 CA96497780 |
141 | D>V | No |
ClinGen TOPMed |
|
|
rs956366535 CA356794860 |
141 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 143 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356794847 rs1269103625 |
143 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA96497779 rs924945852 |
147 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2904746 rs773798880 |
148 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1560457753 CA356794810 |
149 | K>R | No |
ClinGen Ensembl |
|
|
rs767141209 CA2904745 |
151 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2904744 rs140959192 |
152 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356794776 rs1397519285 |
154 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 155 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1662400 CA356794764 rs1346415076 |
156 | L>F | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA96497778 rs979707878 |
158 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2904740 rs775147119 |
159 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 160 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356794738 rs1328164434 |
160 | G>S | No |
ClinGen gnomAD |
|
|
CA2904739 rs769825135 |
160 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1468784596 CA356794719 |
162 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA96497777 rs1043076701 |
163 | S>G | No |
ClinGen TOPMed |
|
|
rs781037053 COSM1211697 CA2904737 |
163 | S>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2904736 rs758500526 |
163 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs748176568 CA2904735 |
165 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2904734 rs779243129 |
167 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356794682 rs1254635444 |
168 | N>S | No |
ClinGen gnomAD |
|
|
CA356794681 rs1254635444 |
168 | N>T | No |
ClinGen gnomAD |
|
|
rs755122277 CA2904733 |
168 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA356794667 rs1274876997 |
170 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 171 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754288522 CA2904732 |
171 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 174 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2904731 rs766668985 |
174 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs756481171 CA356794640 |
174 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356794634 rs1226784070 |
175 | D>G | No |
ClinGen gnomAD |
|
|
CA356794626 rs10028087 |
176 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs10028087 CA2904729 |
176 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA96497774 rs939223975 |
177 | L>V | No |
ClinGen TOPMed |
|
|
rs1190644547 CA356794617 |
178 | L>R | No |
ClinGen TOPMed |
|
|
CA356794620 rs1442611361 |
178 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761462882 CA2904727 |
179 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA356794605 rs1406164779 |
181 | G>R | No |
ClinGen gnomAD |
|
|
CA356794598 rs1475242242 |
182 | A>S | No |
ClinGen TOPMed |
|
|
rs763877351 CA2904725 |
182 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2904724 rs762496437 |
183 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2904723 rs775146649 |
184 | A>T | No |
ClinGen ExAC |
|
|
rs201449024 CA2904721 |
185 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201449024 CA96497773 |
185 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356794578 rs1183514235 |
186 | V>A | No |
ClinGen gnomAD |
|
|
CA2904720 rs776570837 |
186 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA356794572 rs1245055862 |
187 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1403863801 CA356794574 |
187 | P>S | No |
ClinGen TOPMed |
|
|
CA356794565 rs1446668885 |
188 | S>L | No |
ClinGen gnomAD |
|
|
CA2904718 rs748266665 |
189 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276265991 CA356794560 |
189 | G>V | No |
ClinGen TOPMed |
|
|
CA356794555 rs1352531543 |
190 | P>L | No |
ClinGen gnomAD |
|
|
CA356794556 rs1352531543 |
190 | P>R | No |
ClinGen gnomAD |
|
|
CA96497771 rs939792090 |
191 | G>R | No |
ClinGen TOPMed |
|
|
rs778853493 CA2904717 |
192 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749476214 CA356794537 CA2904715 |
193 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356794539 rs1338174551 |
193 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA96497769 rs780284389 |
194 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2904714 rs780284389 |
194 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318534846 CA356794521 |
196 | G>V | No |
ClinGen gnomAD |
|
|
rs1410419788 CA356794518 |
197 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356794508 rs1175499060 |
199 | G>R | No |
ClinGen TOPMed |
|
|
rs1445767502 CA356794501 |
200 | G>S | No |
ClinGen gnomAD |
|
|
rs1184878513 CA356794496 |
201 | A>T | No |
ClinGen gnomAD |
|
|
CA356794486 rs1475112626 |
202 | Q>R | No |
ClinGen gnomAD |
|
|
rs1380053110 CA356794480 |
203 | D>Y | No |
ClinGen TOPMed |
|
|
rs1218201895 CA356794473 |
204 | K>E | No |
ClinGen gnomAD |
|
|
CA356794455 rs1289335977 |
206 | S>L | No |
ClinGen gnomAD |
|
|
CA96497767 rs976910700 |
207 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1212336511 CA356794434 |
210 | T>A | No |
ClinGen gnomAD |
|
|
CA356794430 rs1360656401 |
210 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 215 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751142804 CA2904706 |
215 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA2904705 rs763521548 |
216 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2904704 rs762454343 |
217 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356794387 rs1203509392 |
218 | T>A | No |
ClinGen TOPMed |
|
|
rs1168908152 CA356794382 |
219 | T>A | No |
ClinGen gnomAD |
|
|
rs764817862 TCGA novel CA356794375 |
220 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs764817862 CA2904702 |
220 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356794369 rs1188294515 |
221 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs574038147 CA2904701 |
221 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA356794367 rs574038147 |
221 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1188294515 CA356794371 |
221 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 222 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356794365 rs770921641 |
222 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA356794362 rs1213447911 |
222 | D>V | No |
ClinGen gnomAD |
|
|
CA2904699 rs770921641 |
222 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 223 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356794350 rs1267218804 COSM733365 |
224 | Q>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA356794339 rs1202340974 |
225 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1164547278 CA356794326 |
227 | A>G | No |
ClinGen TOPMed |
|
|
rs905145774 CA96497763 |
227 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356794324 rs1219889177 |
228 | K>Q | No |
ClinGen gnomAD |
|
|
CA2904697 rs773135071 |
229 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs768651447 CA2904696 |
229 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749341260 CA2904695 |
230 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356794310 rs749341260 |
230 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347768461 CA356794303 |
231 | R>H | No |
ClinGen gnomAD |
|
|
CA356794291 rs1297019068 |
233 | A>E | No |
ClinGen gnomAD |
|
|
rs780193663 CA96497761 |
234 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2904694 rs780193663 |
234 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 236 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356794273 rs1355553397 |
236 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA356794274 rs1355553397 |
236 | M>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 237 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770111942 CA2904693 |
240 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs770111942 CA96497760 |
240 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA356794221 rs1577676314 |
244 | A>V | No |
ClinGen Ensembl |
|
|
rs555582844 CA2904692 COSM3380935 |
245 | K>R | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA2904691 rs781683655 |
247 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1175199703 CA356794191 |
249 | G>R | No |
ClinGen gnomAD |
|
|
rs1280175125 CA356794185 |
250 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1577676290 CA356794175 |
251 | T>K | No |
ClinGen Ensembl |
|
|
CA356794173 rs1577676290 |
251 | T>M | No |
ClinGen Ensembl |
|
|
CA96497753 rs752010504 |
252 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356794172 rs752010504 |
252 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2904689 rs752010504 |
252 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757865317 CA2904687 |
253 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2904686 rs752228283 |
253 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs200013511 CA356794161 |
254 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1003415049 CA96497752 |
254 | E>G | No |
ClinGen TOPMed |
|
|
rs200013511 CA356794162 |
254 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200013511 CA2904685 |
254 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356794150 rs1305312792 |
255 | S>R | No |
ClinGen gnomAD |
|
|
CA96497751 rs906323250 |
256 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2904683 rs142886340 |
257 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2904684 rs142886340 |
257 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2904682 rs766167112 |
258 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356794124 rs1300386169 |
260 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 260 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 260 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356794117 rs1560457459 |
261 | Q>* | No |
ClinGen Ensembl |
|
|
CA356794110 rs1450627002 |
262 | P>A | No |
ClinGen gnomAD |
|
|
rs939740294 CA96497750 |
263 | E>G | No |
ClinGen TOPMed |
|
|
CA96497749 rs955489221 |
265 | Y>F | No |
ClinGen gnomAD |
|
|
rs148977351 CA2904681 |
266 | T>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356794078 rs1362239075 |
267 | S>T | No |
ClinGen gnomAD |
|
|
CA2904680 rs773048313 |
268 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA356794070 rs1418262119 |
268 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 272 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299154990 CA356794019 |
275 | Y>C | No |
ClinGen TOPMed |
|
|
CA356793992 rs1560457427 |
279 | A>T | No |
ClinGen Ensembl |
|
|
CA96497748 rs909655539 |
281 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA356793954 rs1242001845 |
285 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1242001845 CA356793953 |
285 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 287 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775710206 CA2904677 |
289 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs770203655 CA2904676 |
290 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2904675 rs746110451 |
292 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1250615652 CA356793896 |
293 | C>Y | No |
ClinGen TOPMed |
|
|
CA96497743 rs868158851 |
294 | N>D | No |
ClinGen Ensembl |
|
|
CA356793874 rs1397811564 |
296 | S>L | No |
ClinGen gnomAD |
|
|
rs1337509992 CA356793877 |
296 | S>P | No |
ClinGen gnomAD |
|
|
CA96497742 rs921513700 |
297 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2904674 rs776923781 |
298 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 298 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 299 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747346931 CA2904672 |
299 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs778189286 CA356793844 |
301 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 301 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2904670 rs758905704 |
303 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA356793832 rs1183723435 |
303 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA356793826 rs1406831947 |
304 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2904668 rs778380899 |
305 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs747676954 CA2904669 |
305 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA356793814 rs1204173334 |
306 | R>C | No |
ClinGen gnomAD |
|
|
rs754419042 CA2904667 |
306 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA356793803 rs1220673234 |
308 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA96497741 rs965670478 |
308 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2904665 rs765968801 |
311 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs372138598 CA2904664 |
312 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1001511874 CA96497739 |
314 | Y>* | No |
ClinGen TOPMed |
|
|
CA96497738 rs924751109 |
316 | E>A | No |
ClinGen TOPMed |
|
|
rs1023475544 CA96497736 |
317 | Y>N | No |
ClinGen Ensembl |
|
|
CA2904661 rs761800922 |
320 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 321 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 321 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779604370 CA2904627 |
323 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212247441 CA356793672 |
324 | Q>P | No |
ClinGen gnomAD |
|
|
CA2904626 rs769131860 |
326 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA96466754 VAR_027692 rs13115990 |
329 | P>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1369847876 CA356793639 |
329 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 329 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356793633 rs1167332019 |
330 | K>R | No |
ClinGen gnomAD |
|
|
CA96466753 rs767982235 |
331 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1560385987 CA356793621 |
332 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs535376167 CA2904624 |
333 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA96466752 rs200752163 |
335 | D>V | No |
ClinGen 1000Genomes |
|
|
CA356793574 rs1302861047 |
338 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 343 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 348 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757136998 CA2904622 |
348 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs751374893 CA2904621 |
350 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA356793476 rs1168449872 |
352 | C>G | No |
ClinGen gnomAD |
|
|
CA356793466 rs1409428836 |
353 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 355 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173087794 CA356793419 |
360 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356793411 rs1577809244 |
361 | D>A | No |
ClinGen Ensembl |
|
|
rs868062440 CA96466749 |
362 | S>N | No |
ClinGen Ensembl |
|
|
CA2904620 rs777894935 |
363 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2904619 rs754028061 |
366 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2904618 rs754028061 |
366 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759831332 CA356793377 |
366 | A>S | No |
ClinGen Ensembl |
|
|
rs759831332 CA96466747 |
366 | A>T | No |
ClinGen Ensembl |
|
|
CA356793356 COSM1694307 rs1248366683 |
369 | P>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1577809214 CA356793351 |
370 | Q>R | No |
ClinGen Ensembl |
|
|
CA356793345 rs1201879198 |
371 | D>Y | No |
ClinGen gnomAD |
|
|
CA2904616 rs760604321 |
372 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243506439 CA356793332 |
373 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs750680615 CA2904615 |
374 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2904614 rs767612608 |
376 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220125757 CA356793306 |
377 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356793294 rs1577809190 |
378 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 379 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370421685 CA356793287 |
379 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA96466745 rs1052982294 |
380 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356793283 rs1052982294 |
380 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774696281 CA2904612 |
382 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769212308 CA2904611 |
383 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96466744 rs982392187 |
384 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1468464977 CA356793254 |
385 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA356793245 rs1428799259 |
386 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 388 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356793223 rs1433528259 |
389 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 390 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2904609 rs549391615 |
391 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM265812 CA2904608 rs769382363 |
391 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs549391615 CA356793214 |
391 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2904607 rs745313124 |
392 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs780942606 CA2904606 |
393 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2904605 rs770673672 |
394 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA96466743 rs267600164 |
396 | A>T | No |
ClinGen Ensembl |
|
|
CA96466742 rs904323105 |
397 | P>A | No |
ClinGen gnomAD |
|
|
rs1255027031 CA356793177 |
397 | P>R | No |
ClinGen gnomAD |
|
|
CA356793175 rs1257082015 |
398 | V>I | No |
ClinGen gnomAD |
|
|
CA2904603 rs140160486 |
399 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1240066107 CA356793152 |
401 | I>V | No |
ClinGen gnomAD |
|
|
CA356793144 rs1378248703 |
402 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356793146 rs1378248703 |
402 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 403 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356793136 rs1450516848 |
403 | P>Q | No |
ClinGen gnomAD |
|
|
rs758208121 CA2904602 |
403 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1466414133 CA356793124 |
405 | D>E | No |
ClinGen gnomAD |
|
|
CA2904601 rs146165410 |
405 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM77939 rs143160739 CA2904600 |
407 | R>C | lung ovary Variant assessed as Somatic; 0.0 impact. prostate [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2904599 rs756267175 |
407 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 409 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1180019830 CA356793094 |
410 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2904597 rs767796797 |
410 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA356793044 rs1259368936 |
417 | I>F | No |
ClinGen gnomAD |
|
|
CA356793036 rs1355108489 |
418 | S>N | No |
ClinGen gnomAD |
|
|
rs765636447 CA2904591 |
421 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2904593 rs776083231 |
421 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs919500820 CA96466739 |
423 | T>I | No |
ClinGen gnomAD |
|
|
CA356792998 rs1292352951 |
424 | N>S | No |
ClinGen gnomAD |
|
|
CA2904588 rs770763717 |
426 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs746671350 CA2904587 |
428 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 428 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 429 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs963582376 CA96466738 |
429 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2904586 rs560985341 |
431 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356792952 rs560985341 |
431 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356792944 rs1560385802 |
432 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 432 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2904584 rs747874065 |
435 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs778950237 CA2904583 |
436 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1187555796 CA356792907 |
438 | E>K | No |
ClinGen gnomAD |
|
|
CA356792897 rs1425210751 COSM1694306 |
439 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA356792884 rs1193448012 |
440 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356792888 rs1259207538 |
440 | M>K | No |
ClinGen gnomAD |
|
|
CA2904582 rs754867847 |
441 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746019348 CA2904581 |
444 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2904580 rs559906448 |
446 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1356186315 CA356792836 |
447 | F>I | No |
ClinGen gnomAD |
|
|
CA2904579 rs757263354 |
447 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1429810 rs1185092466 CA356792831 |
448 | K>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1419430040 CA356792817 COSM3940880 |
449 | K>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs771085798 CA2904578 |
449 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2904577 rs764255859 |
451 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1277768423 CA356792800 |
452 | I>F | No |
ClinGen gnomAD |
|
|
CA2904576 rs758841860 |
454 | D>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 457 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2904575 rs752969831 |
459 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200347865 CA2904574 COSM1055606 |
459 | R>H | oesophagus endometrium Variant assessed as Somatic; 0.00167 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs200347865 CA2904573 |
459 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777136911 CA2904572 |
460 | K>N | No |
ClinGen ExAC gnomAD |
|
|
COSM188836 CA2904571 rs765990631 |
461 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2904570 rs141663296 |
461 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA356792730 rs1335726078 |
463 | W>R | No |
ClinGen TOPMed |
|
| TCGA novel | 464 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356792667 rs1560385752 |
471 | Y>C | No |
ClinGen Ensembl |
|
|
rs1365406541 CA356792659 |
472 | G>A | No |
ClinGen TOPMed |
|
|
rs748043233 CA356792652 |
473 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1451554847 CA356792645 |
474 | L>L | No |
ClinGen gnomAD |
No associated diseases with Q6ZWB6
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| postsynaptic membrane | A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
| presynaptic membrane | A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| regulation of G protein-coupled receptor signaling pathway | Any process that modulates the frequency, rate or extent of G protein-coupled receptor signaling pathway. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q29RJ0 | KCTD18 | BTB/POZ domain-containing protein KCTD18 | Bos taurus (Bovine) | PR |
| A6H6X4 | KCTD4 | BTB/POZ domain-containing protein KCTD4 | Bos taurus (Bovine) | PR |
| Q68DU8 | KCTD16 | BTB/POZ domain-containing protein KCTD16 | Homo sapiens (Human) | PR |
| Q96CX2 | KCTD12 | BTB/POZ domain-containing protein KCTD12 | Homo sapiens (Human) | PR |
| Q8N5I3 | KCNRG | Potassium channel regulatory protein | Homo sapiens (Human) | PR |
| Q9BQ13 | KCTD14 | BTB/POZ domain-containing protein KCTD14 | Homo sapiens (Human) | PR |
| Q6PI47 | KCTD18 | BTB/POZ domain-containing protein KCTD18 | Homo sapiens (Human) | PR |
| Q5DTY9 | Kctd16 | BTB/POZ domain-containing protein KCTD16 | Mus musculus (Mouse) | PR |
| Q6WVG3 | Kctd12 | BTB/POZ domain-containing protein KCTD12 | Mus musculus (Mouse) | PR |
| Q50H33 | Kctd8 | BTB/POZ domain-containing protein KCTD8 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALKDTGSGG | STILPISEMV | SSSSSPGASA | AAAPGPCAPS | PFPEVVELNV | GGQVYVTKHS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TLLSVPDSTL | ASMFSPSSPR | GGARRRGELP | RDSRARFFID | RDGFLFRYVL | DYLRDKQLAL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PEHFPEKERL | LREAEYFQLT | DLVKLLSPKV | TKQNSLNDEG | CQSDLEDNVS | QGSSDALLLR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GAAAAVPSGP | GAHGGGGGGG | AQDKRSGFLT | LGYRGSYTTV | RDNQADAKFR | RVARIMVCGR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IALAKEVFGD | TLNESRDPDR | QPEKYTSRFY | LKFTYLEQAF | DRLSEAGFHM | VACNSSGTAA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FVNQYRDDKI | WSSYTEYIFF | RPPQKIVSPK | QEHEDRKHDK | VTDKGSESGT | SCNELSTSSC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DSHSEASTPQ | DNPSSAQQAT | AHQPNTLTLD | RPSKKAPVQW | IPPPDKRRNS | ELFQTLISKS |
| 430 | 440 | 450 | 460 | 470 | |
| RETNLSKKKV | CEKLSVEEEM | KKCIQDFKKI | HIPDYFPERK | RQWQSELLQK | YGL |