Q9BQ13
PR
Gene name |
KCTD14 |
Protein name |
BTB/POZ domain-containing protein KCTD14 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:65987 |
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 Q9BQ13
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BQ13-F1 | Predicted | AlphaFoldDB |
233 variants for Q9BQ13
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs752574855 CA6202830 |
5 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382109516 rs1294884794 |
6 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA382109476 rs966971813 |
8 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA224888929 rs966971813 |
8 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs765493402 CA382109484 |
8 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs765493402 CA6202829 |
8 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA382109460 rs1246472698 |
9 | R>Q | No |
ClinGen gnomAD |
|
|
rs541681967 CA6202828 |
9 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761063488 CA6202823 |
11 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA382109437 rs761063488 |
11 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs766536859 CA6202824 |
11 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA382109431 rs1320974582 |
12 | G>S | No |
ClinGen gnomAD |
|
|
CA6202821 rs572661672 |
13 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200996605 CA6202820 |
14 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1362375727 CA382109397 |
14 | M>T | No |
ClinGen gnomAD |
|
|
rs755236360 CA224888867 |
16 | S>G | No |
ClinGen Ensembl |
|
|
CA6202818 rs769371766 |
16 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295582574 CA382109318 |
17 | Q>R | No |
ClinGen gnomAD |
|
|
rs745602811 CA6202817 |
18 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382109271 rs1349867973 |
19 | P>A | No |
ClinGen gnomAD |
|
|
rs1349867973 CA382109268 |
19 | P>S | No |
ClinGen gnomAD |
|
|
rs1001313083 CA224888816 |
20 | L>P | No |
ClinGen gnomAD |
|
|
CA382109232 rs1388360406 |
21 | P>T | No |
ClinGen gnomAD |
|
|
CA6202815 rs780557414 |
22 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA382109144 rs200251983 |
23 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200251983 CA6202813 |
23 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382109151 rs1263039298 |
23 | S>P | No |
ClinGen TOPMed |
|
|
rs1263039298 CA382109149 |
23 | S>T | No |
ClinGen TOPMed |
|
|
CA6202812 rs200251983 |
23 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1024183535 CA224888782 |
24 | P>S | No |
ClinGen Ensembl |
|
|
CA382109123 rs777817264 |
25 | R>G | No |
ClinGen ExAC gnomAD |
|
| rs763060357 | 25 | R>P | Variant assessed as Somatic; 0.0001232 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382109107 rs1565310843 |
25 | R>Q | No |
ClinGen Ensembl |
|
|
CA6202811 rs777817264 |
25 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6202807 rs752470447 |
28 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423986553 CA382109044 |
30 | T>A | No |
ClinGen TOPMed |
|
|
CA382109039 rs1303667785 |
30 | T>K | No |
ClinGen TOPMed |
|
|
rs1565308311 CA382107802 |
35 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 36 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368189196 CA6202783 |
37 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6202781 rs752112333 |
39 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs752112333 COSM71275 CA6202780 |
39 | V>I | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs957456177 CA224884591 |
40 | G>E | No |
ClinGen TOPMed |
|
|
rs371597243 CA6202778 |
40 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6202777 rs61742053 |
41 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770546497 CA6202776 |
42 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA600711300 rs1253401591 |
45 | T>* | No |
ClinGen gnomAD |
|
|
CA6202774 rs367774439 |
45 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1001483361 CA224884564 |
45 | T>I | No |
ClinGen Ensembl |
|
|
CA382107538 rs1199538856 |
47 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA382107537 rs1199538856 |
47 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1368588221 CA382107517 |
49 | G>D | No |
ClinGen TOPMed |
|
|
rs893585828 CA382107520 |
49 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs893585828 CA224884544 |
49 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs373768210 CA6202771 |
55 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA224884538 rs776007535 |
56 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761029430 CA224884530 |
64 | S>C | No |
ClinGen Ensembl |
|
|
rs1395516834 CA382107234 |
65 | S>T | No |
ClinGen gnomAD |
|
|
CA382107197 rs1289606849 |
67 | A>D | No |
ClinGen gnomAD |
|
|
CA382107173 rs1290104381 |
69 | A>P | No |
ClinGen TOPMed |
|
|
CA382107146 rs1565308197 |
70 | S>C | No |
ClinGen Ensembl |
|
|
rs1565308202 CA382107154 |
70 | S>P | No |
ClinGen Ensembl |
|
|
rs139599819 CA6202768 |
71 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141824379 CA6202765 |
73 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6202764 rs141824379 |
73 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6202763 rs376113147 |
73 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6202760 rs374830205 |
75 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6202758 rs199818651 |
76 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536879431 CA6202757 |
76 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773037570 CA6202756 |
77 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767308725 CA6202755 |
79 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs149621681 CA6202754 |
80 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149621681 CA6202753 |
80 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149621681 CA382107011 |
80 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749252109 CA6202751 |
81 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6202750 rs77687067 |
81 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382107003 rs77687067 |
81 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746060738 CA6202748 |
87 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382106951 rs1406874855 |
89 | I>V | No |
ClinGen gnomAD |
|
|
CA6202744 rs370582835 |
94 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs534936161 CA6202743 COSM932231 |
94 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs534936161 CA382106916 |
94 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6202742 rs753190506 |
95 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 95 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6202741 rs765602846 |
96 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1200088984 CA382106894 |
98 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6202740 rs565630316 |
98 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6202739 rs565630316 |
98 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1364089536 CA382106887 |
99 | P>L | No |
ClinGen gnomAD |
|
|
rs767220900 CA6202738 |
101 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6202737 rs138963290 |
102 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs969844066 CA224884304 |
103 | I>N | No |
ClinGen gnomAD |
|
|
CA382106863 rs969844066 |
103 | I>T | No |
ClinGen gnomAD |
|
|
rs773908051 CA6202736 |
105 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6202735 rs762927190 |
106 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762927190 CA6202734 |
106 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224884303 rs868335410 |
108 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs775331707 CA6202733 |
108 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA382106830 rs1014155170 |
109 | E>* | No |
ClinGen gnomAD |
|
|
rs773238436 CA6202732 CA224884282 COSM690570 |
109 | E>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
|
rs1014155170 CA224884296 |
109 | E>K | No |
ClinGen gnomAD |
|
|
CA6202731 rs745616206 |
111 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6202730 rs776411801 |
111 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6202728 rs377147362 COSM932229 |
114 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1384860716 CA382106772 |
117 | P>L | No |
ClinGen TOPMed |
|
|
rs1269736077 CA382106748 |
121 | L>V | No |
ClinGen gnomAD |
|
|
CA382106735 rs1296529720 |
123 | E>G | No |
ClinGen TOPMed |
|
|
rs368923825 CA6202724 |
125 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1342435232 CA382106721 |
125 | M>L | No |
ClinGen TOPMed |
|
|
CA6202723 rs376441010 |
127 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382106706 rs376441010 |
127 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382106691 rs1210080368 |
129 | F>S | No |
ClinGen TOPMed |
|
|
rs1254589639 CA382106686 |
130 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6202719 rs149221032 |
132 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224884203 rs995372019 |
133 | V>L | No |
ClinGen Ensembl |
|
|
CA224884202 rs570013567 |
134 | S>C | No |
ClinGen Ensembl |
|
|
CA382106654 rs1221118030 |
135 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs369578791 CA6202718 |
135 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1342643756 CA382106641 |
137 | Q>* | No |
ClinGen gnomAD |
|
|
CA224884191 rs569668340 |
139 | L>S | No |
ClinGen gnomAD |
|
|
CA382106618 rs1423203722 |
140 | L>P | No |
ClinGen TOPMed |
|
|
rs899260629 CA224884175 |
141 | Q>* | No |
ClinGen gnomAD |
|
|
rs752279642 CA6202716 |
143 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6202717 rs762318610 |
143 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6202714 rs759478547 |
145 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA382106559 rs776410047 |
146 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770756331 CA6202712 |
147 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176244513 CA382106523 |
148 | N>K | No |
ClinGen gnomAD |
|
|
CA382106530 rs1591172710 |
148 | N>T | No |
ClinGen Ensembl |
|
|
CA382106511 rs1473116268 |
149 | L>P | No |
ClinGen gnomAD |
|
|
CA6202711 rs760933016 |
150 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs773260736 CA6202710 |
151 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6202708 rs375465490 |
154 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6202707 rs150091840 |
154 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375465490 CA6202709 |
154 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 156 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326283967 CA382106420 |
156 | A>V | No |
ClinGen TOPMed |
|
|
rs769273163 CA6202706 |
157 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6202704 COSM932228 rs141944721 |
157 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6202705 rs141944721 |
157 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777248440 CA6202701 |
158 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA6202703 rs756482562 |
158 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777248440 CA6202702 |
158 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6202700 rs201814690 |
159 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA382106370 rs1379279336 |
160 | A>D | No |
ClinGen gnomAD |
|
|
CA6202698 rs764780664 |
161 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA6202699 rs752086858 |
161 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465605138 CA382106331 |
162 | T>I | No |
ClinGen TOPMed |
|
|
CA6202697 rs202108761 |
164 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 164 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6202695 rs372373172 |
164 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6202696 rs202108761 |
164 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6202692 rs772128375 |
165 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs187067345 CA6202693 |
165 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6202691 rs572414723 |
166 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774567451 CA6202690 |
167 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA382106222 CA382106224 rs369393174 |
167 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6202688 rs749788519 |
168 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6202686 rs770362652 |
170 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA382106151 rs1466102098 |
170 | V>M | No |
ClinGen gnomAD |
|
|
rs112075167 CA6202684 |
171 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6202683 rs200905200 |
173 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381365379 CA382106052 |
174 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6202681 rs778376569 |
175 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs778376569 CA382106021 |
175 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA382105990 rs1177154436 |
177 | E>K | No |
ClinGen gnomAD |
|
|
rs1367816350 CA382105962 |
178 | Q>E | No |
ClinGen gnomAD |
|
|
CA6202680 rs754439223 |
178 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1453496663 CA382105938 |
179 | D>N | No |
ClinGen gnomAD |
|
|
CA6202679 rs753380016 |
180 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6202678 rs766163977 |
181 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA382105886 rs1348955052 |
181 | Y>H | No |
ClinGen TOPMed |
|
|
CA382105857 rs1403703730 |
182 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 186 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 187 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 189 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750171746 CA6202676 |
189 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1246417248 CA382105672 |
190 | Q>R | No |
ClinGen gnomAD |
|
|
rs561739183 CA6202675 |
191 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs147595734 CA6202674 |
194 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382105607 rs1248424978 |
194 | M>K | No |
ClinGen gnomAD |
|
|
rs1274659828 CA382105544 |
197 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA382105521 rs764432104 |
198 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs764432104 CA6202672 |
198 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA382105480 rs1294396116 |
200 | K>Q | No |
ClinGen gnomAD |
|
|
CA6202670 rs775714372 |
201 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6202669 rs770139308 |
201 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs746442547 CA6202668 |
203 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382105355 rs1403574091 |
204 | W>* | No |
ClinGen gnomAD |
|
|
CA382105338 rs1365038320 |
204 | W>C | No |
ClinGen gnomAD |
|
|
CA6202667 COSM77938 rs182601195 |
206 | A>V | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 209 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6202663 rs754632203 |
210 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6202661 rs371557115 |
212 | D>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748740683 CA6202662 COSM932224 |
212 | D>N | Variant assessed as Somatic; 0.0008315 impact. skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA382105187 rs1181495566 |
213 | L>P | No |
ClinGen TOPMed |
|
|
CA382105181 rs1412649280 |
214 | M>R | No |
ClinGen TOPMed |
|
|
rs756001694 CA6202660 |
215 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382105156 rs1412793480 |
218 | E>K | No |
ClinGen TOPMed |
|
|
rs750414319 CA6202659 |
222 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs767193473 CA6202658 |
223 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382105111 rs1304550561 |
224 | Q>* | No |
ClinGen TOPMed |
|
|
rs779444111 CA224883803 |
224 | Q>P | No |
ClinGen Ensembl |
|
|
rs779444111 CA224883796 |
224 | Q>R | No |
ClinGen Ensembl |
|
|
CA382105106 rs1313163076 |
225 | G>R | No |
ClinGen gnomAD |
|
|
CA224883794 rs1037629328 |
226 | Y>* | No |
ClinGen TOPMed |
|
|
rs757067564 CA6202657 |
226 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs764342153 CA6202655 |
227 | K>N | No |
ClinGen ExAC |
|
|
CA6202656 rs367565302 |
227 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224883748 rs1017659715 |
229 | F>L | No |
ClinGen TOPMed |
|
|
rs775415457 CA6202652 |
230 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382105052 rs1591172225 |
233 | Y>S | No |
ClinGen Ensembl |
|
|
CA382105037 rs1297844449 |
235 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1204541561 CA382105032 |
236 | Y>C | No |
ClinGen TOPMed |
|
|
CA6202649 rs539940033 |
237 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382105026 rs1174087242 |
237 | P>S | No |
ClinGen gnomAD |
|
|
CA382105027 rs1174087242 |
237 | P>T | No |
ClinGen gnomAD |
|
|
rs1439557313 CA382105023 |
238 | T>P | No |
ClinGen TOPMed |
|
|
rs1412685791 CA382105016 |
239 | K>E | No |
ClinGen gnomAD |
|
|
rs922703258 CA224883726 |
239 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA382105010 rs1236724637 |
240 | R>G | No |
ClinGen TOPMed |
|
|
CA224883720 rs548249656 |
240 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs771375948 CA6202648 |
240 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA382104996 rs374366969 |
242 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6202646 rs374366969 COSM196622 |
242 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6202644 rs371137566 |
243 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382104985 rs1202224379 |
243 | F>L | No |
ClinGen gnomAD |
|
|
CA6202643 rs577733081 |
247 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA224883629 rs376620104 |
253 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs745391984 CA6202641 |
254 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745391984 CA382104909 |
254 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224883628 rs868480687 |
256 | W>R | No |
ClinGen Ensembl |
|
|
rs757263635 CA6202639 |
256 | W>W | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9BQ13
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 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. |
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 |
| Q96CX2 | KCTD12 | BTB/POZ domain-containing protein KCTD12 | Homo sapiens (Human) | PR |
| Q68DU8 | KCTD16 | BTB/POZ domain-containing protein KCTD16 | Homo sapiens (Human) | PR |
| Q6ZWB6 | KCTD8 | BTB/POZ domain-containing protein KCTD8 | Homo sapiens (Human) | PR |
| Q8N5I3 | KCNRG | Potassium channel regulatory protein | Homo sapiens (Human) | PR |
| Q6PI47 | KCTD18 | BTB/POZ domain-containing protein KCTD18 | Homo sapiens (Human) | PR |
| Q50H33 | Kctd8 | BTB/POZ domain-containing protein KCTD8 | Mus musculus (Mouse) | 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 |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWQGCAVERP | VGRMTSQTPL | PQSPRPRRPT | MSTVVELNVG | GEFHTTTLGT | LRKFPGSKLA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EMFSSLAKAS | TDAEGRFFID | RPSTYFRPIL | DYLRTGQVPT | QHIPEVYREA | QFYEIKPLVK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLEDMPQIFG | EQVSRKQFLL | QVPGYSENLE | LMVRLARAEA | ITARKSSVLV | CLVETEEQDA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YYSEVLCFLQ | DKKMFKSVVK | FGPWKAVLDN | SDLMHCLEMD | IKAQGYKVFS | KFYLTYPTKR |
| 250 | |||||
| NEFHFNIYSF | TFTWW |