Q8N5I3
PR
Gene name |
KCNRG (CLLD4) |
Protein name |
Potassium channel regulatory protein |
Names |
Potassium channel regulator, Protein CLLD4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:283518 |
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 Q8N5I3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N5I3-F1 | Predicted | AlphaFoldDB |
226 variants for Q8N5I3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA249423396 rs370829504 |
2 | S>R | No |
ClinGen Ensembl |
|
|
CA388206293 rs1295434871 |
5 | E>* | No |
ClinGen gnomAD |
|
|
CA388206309 rs1594593200 |
7 | V>G | No |
ClinGen Ensembl |
|
|
CA249423403 rs775677947 |
9 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371471440 CA6984942 COSM1367392 |
10 | N>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768695076 CA6984943 |
11 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA388206349 rs1368561848 |
14 | K>T | No |
ClinGen gnomAD |
|
|
CA6984944 rs774378163 |
15 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6984945 rs762253211 |
16 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs182933979 CA6984946 |
17 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6984947 rs773512879 |
18 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748933939 CA249423437 |
19 | R>G | No |
ClinGen Ensembl |
|
|
rs1052401170 CA249423441 |
19 | R>S | No |
ClinGen Ensembl |
|
|
CA388206383 rs1594593352 |
20 | F>I | No |
ClinGen Ensembl |
|
| TCGA novel | 20 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761085252 CA6984948 |
22 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392499025 CA388206403 |
23 | I>L | No |
ClinGen TOPMed |
|
|
CA6984951 rs754635280 |
25 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764861264 CA6984952 |
26 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6984953 rs754704579 |
29 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758273779 CA6984954 |
30 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6984955 rs143306362 |
30 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143306362 CA388206449 |
30 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3399410 CA6984956 rs751370278 |
33 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs757054444 CA6984957 |
33 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594593494 CA388206473 |
34 | M>I | No |
ClinGen Ensembl |
|
|
CA249423542 rs780921066 |
34 | M>T | No |
ClinGen TOPMed |
|
|
rs780297114 CA6984958 |
34 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6984959 COSM303884 rs749546546 |
38 | R>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6984960 rs374886526 |
40 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA249423552 rs375378114 |
41 | E>G | No |
ClinGen ESP gnomAD |
|
|
rs1286860863 CA388206531 |
42 | F>L | No |
ClinGen TOPMed |
|
|
CA388206525 rs1356423023 |
42 | F>L | No |
ClinGen TOPMed |
|
|
CA6984961 rs778981728 |
44 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs140212682 CA249423596 |
45 | V>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6984962 rs748251688 |
46 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566448543 CA388206554 |
46 | G>R | No |
ClinGen Ensembl |
|
|
rs773744562 CA6984964 |
47 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs150313045 CA6984963 |
47 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA249423602 rs1040510271 |
48 | Q>H | No |
ClinGen Ensembl |
|
|
rs1325643438 CA388206570 |
49 | I>V | No |
ClinGen TOPMed |
|
|
rs771452564 CA6984967 |
53 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6984968 rs777085665 |
55 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388206612 rs1421465918 |
55 | G>S | No |
ClinGen TOPMed |
|
|
rs1411185935 CA388206640 |
59 | S>R | No |
ClinGen gnomAD |
|
|
CA249423624 rs901382700 |
59 | S>T | No |
ClinGen Ensembl |
|
|
rs1036584400 CA249423632 |
60 | F>Y | No |
ClinGen TOPMed |
|
|
CA388206658 rs1594593711 |
61 | I>T | No |
ClinGen Ensembl |
|
|
rs367947576 CA6984969 |
63 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388206690 rs1172815164 |
66 | R>G | No |
ClinGen TOPMed |
|
|
COSM3417650 rs764916467 CA6984971 |
66 | R>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 68 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 69 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201321734 CA6984972 |
70 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200994762 CA6984973 |
72 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6984974 rs763989101 |
74 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA388206753 rs1484045589 |
75 | E>D | No |
ClinGen gnomAD |
|
|
CA6984976 rs751486313 |
78 | D>G | No |
ClinGen ExAC TOPMed |
|
|
CA6984977 rs757105415 |
79 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA388206789 rs1471743844 |
81 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs12583744 CA249423675 |
81 | R>K | No |
ClinGen Ensembl |
|
|
rs866665695 CA249423676 |
86 | A>S | No |
ClinGen TOPMed |
|
|
rs1178560100 CA388206830 |
87 | L>V | No |
ClinGen gnomAD |
|
|
rs201807354 CA6984980 |
89 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779090101 CA6984981 |
91 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6984983 COSM947923 rs375169401 |
92 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6984984 rs200474686 |
92 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6984985 rs200474686 |
92 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1214962832 CA388206872 |
94 | L>I | No |
ClinGen Ensembl |
|
|
CA6984986 rs771505850 |
94 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 94 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771505850 CA388206875 |
94 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA388206880 rs1303045111 |
95 | V>G | No |
ClinGen gnomAD |
|
|
rs759974304 CA6984988 |
95 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs769629288 CA6984989 |
96 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs775187503 CA6984990 |
97 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA388206899 rs1278728613 |
98 | L>F | No |
ClinGen gnomAD |
|
|
rs1329591198 CA388206904 |
99 | N>S | No |
ClinGen gnomAD |
|
|
rs762412533 CA6984992 |
100 | P>L | No |
ClinGen ExAC |
|
|
rs763692832 CA6984993 |
101 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388206918 rs1312186104 |
101 | Y>C | No |
ClinGen TOPMed |
|
|
CA388206917 rs1312186104 |
101 | Y>S | No |
ClinGen TOPMed |
|
|
CA6984995 rs567668233 |
104 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388206938 rs1482137520 |
105 | P>S | No |
ClinGen gnomAD |
|
|
CA388206948 rs1193132734 |
106 | R>I | No |
ClinGen gnomAD |
|
|
rs956426040 CA249423802 |
107 | P>L | No |
ClinGen TOPMed |
|
|
rs200397876 CA6984998 |
108 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6984997 rs750272280 |
108 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA388206969 rs1393142221 |
110 | V>E | No |
ClinGen gnomAD |
|
| TCGA novel | 111 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388206989 rs1355481629 |
113 | H>R | No |
ClinGen gnomAD |
|
|
rs752992853 CA6985000 |
113 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6985002 rs777921805 |
115 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs746993779 CA6985005 |
117 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6985003 rs138037488 |
117 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1301725894 CA388207049 |
122 | F>C | No |
ClinGen gnomAD |
|
|
rs1482538853 CA388207054 |
123 | F>L | No |
ClinGen TOPMed |
|
|
rs1239307738 CA388207060 |
124 | R>G | No |
ClinGen TOPMed |
|
|
rs781761422 CA6985007 |
126 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs770254671 CA6985009 |
130 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA388207101 rs770254671 |
130 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1016862593 CA249423903 |
131 | K>T | No |
ClinGen TOPMed |
|
|
rs1266189900 CA388207124 |
133 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA388207133 rs1488292703 |
134 | E>D | No |
ClinGen gnomAD |
|
|
CA388207143 rs1212110708 |
135 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1292378225 CA388207144 |
136 | L>I | No |
ClinGen TOPMed |
|
|
CA249423904 rs927563777 |
137 | T>I | No |
ClinGen TOPMed |
|
|
rs1255722688 CA388207161 |
139 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs775679320 CA6985012 |
140 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA388207169 rs1250874377 |
140 | I>V | No |
ClinGen gnomAD |
|
|
CA6985013 rs748995629 |
142 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs980901366 CA249423927 |
143 | F>L | No |
ClinGen Ensembl |
|
|
rs928034303 CA249423931 |
144 | T>I | No |
ClinGen gnomAD |
|
|
CA388207201 rs1350056249 |
145 | E>G | No |
ClinGen gnomAD |
|
|
rs1457073478 CA388207207 |
146 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1457073478 CA388207205 |
146 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6985015 rs773920365 |
147 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436352926 CA388207218 |
148 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs142559163 CA388207228 |
149 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142559163 CA6985016 |
149 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199969189 CA6985019 |
150 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6985018 rs773100412 |
150 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA388207234 rs1416549683 |
151 | T>A | No |
ClinGen TOPMed |
|
|
CA6985022 rs758649728 |
153 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6985024 rs764218311 |
155 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751719798 CA6985025 |
157 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 157 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566449607 CA388207288 |
158 | P>L | No |
ClinGen Ensembl |
|
|
CA388207285 rs1236371033 |
158 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 160 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6985027 rs781775044 |
160 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6985029 rs112950191 |
161 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6985028 rs746411393 |
161 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749553507 CA6985033 |
163 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6985034 rs773850032 |
163 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749553507 CA6985032 |
163 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6985031 rs780484453 |
163 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388207319 rs1450778941 |
164 | L>F | No |
ClinGen gnomAD |
|
|
rs1290377325 CA388207339 |
167 | P>L | No |
ClinGen gnomAD |
|
|
rs771598479 CA6985036 |
167 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs772658100 CA6985037 |
169 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760617144 CA6985039 |
171 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6985040 rs766161755 |
173 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs79753747 CA249424054 |
174 | H>P | No |
ClinGen Ensembl |
|
|
rs1352177645 CA388207385 |
175 | D>N | No |
ClinGen TOPMed |
|
|
rs1465151159 CA388207395 |
176 | L>Q | No |
ClinGen gnomAD |
|
|
CA388207394 rs1212142401 |
176 | L>V | No |
ClinGen gnomAD |
|
|
CA388207421 rs1400568549 |
180 | C>R | No |
ClinGen TOPMed |
|
|
rs920388286 CA249424060 |
181 | G>S | No |
ClinGen TOPMed |
|
|
rs759238715 CA6985042 |
181 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1185164101 CA388207444 |
183 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA249424080 rs910247922 |
184 | S>G | No |
ClinGen Ensembl |
|
|
CA388207450 rs1440604784 |
184 | S>I | No |
ClinGen TOPMed |
|
| TCGA novel | 184 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157678442 CA388207464 |
186 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA388207462 rs1157678442 |
186 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA388207463 rs1157678442 |
186 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6985045 rs764426450 |
187 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs751808663 CA6985046 |
187 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6985047 rs762075956 |
188 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA388207478 rs201160285 |
189 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6985048 rs201160285 |
189 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432902481 CA388207490 |
190 | T>I | No |
ClinGen gnomAD |
|
|
rs750458733 CA6985049 |
191 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs766962208 CA6985069 |
193 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA6985050 rs376586545 |
193 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1227643132 CA388207741 |
194 | Y>C | No |
ClinGen gnomAD |
|
|
rs1273859094 CA388207750 |
195 | V>A | No |
ClinGen gnomAD |
|
|
CA388207757 rs1365886036 |
196 | S>A | No |
ClinGen gnomAD |
|
|
CA6985070 rs754327941 |
197 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1342491821 CA388207776 |
198 | K>R | No |
ClinGen gnomAD |
|
|
CA388207786 rs1478516159 |
200 | D>N | No |
ClinGen TOPMed |
|
|
CA6985071 rs375343197 |
202 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369440174 CA6985072 |
202 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6985074 rs758105391 |
206 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6985076 rs77514349 |
207 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388207839 rs1203002274 |
208 | T>A | No |
ClinGen TOPMed |
|
|
CA6985077 rs770325179 |
211 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1031595597 CA249426151 |
211 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs745822756 CA6985079 |
212 | G>S | No |
ClinGen ExAC TOPMed |
|
|
rs775436353 CA6985081 |
214 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs755333151 CA6985080 |
214 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388207880 rs749074964 |
215 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6985082 rs749074964 |
215 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388207909 rs1161136802 CA388207910 |
219 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6985085 rs142871359 CA388207917 |
220 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6985086 rs766404770 |
221 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759976502 CA6985088 |
226 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6985089 rs765720829 |
227 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6985090 rs753128069 |
229 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758732135 CA6985091 |
230 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs763785004 CA6985092 |
231 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6985093 rs751192614 |
233 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs986990242 CA249426188 |
235 | D>E | No |
ClinGen Ensembl |
|
|
rs1198294622 CA388208015 |
236 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA388208020 rs1350454859 |
236 | K>N | No |
ClinGen gnomAD |
|
|
CA388208026 rs1203884964 |
237 | T>S | No |
ClinGen gnomAD |
|
|
rs756893558 CA6985095 |
238 | E>K | No |
ClinGen ExAC |
|
|
CA6985096 rs188126335 |
239 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388208043 rs1443010129 |
240 | Y>H | No |
ClinGen gnomAD |
|
|
rs1566454312 CA388208053 |
241 | S>N | No |
ClinGen Ensembl |
|
|
CA6985098 rs745323103 |
247 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388208099 rs745323103 |
247 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA249426225 rs944880171 |
251 | L>F | No |
ClinGen TOPMed |
|
|
rs199611851 CA6985099 |
253 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 254 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6985101 rs138181145 |
254 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1342412607 CA388208156 |
256 | T>A | No |
ClinGen TOPMed |
|
|
rs768598693 CA6985102 |
256 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6985103 rs774252239 |
258 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1404269708 CA388208177 |
259 | P>L | No |
ClinGen gnomAD |
|
|
CA388208197 rs1296292544 |
262 | I>T | No |
ClinGen gnomAD |
|
|
CA6985104 rs747204054 |
263 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA388208210 rs1411240566 |
264 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 265 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6985106 rs776634555 |
266 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs759657388 CA6985107 |
267 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1387113731 CA388208226 |
267 | Q>K | No |
ClinGen gnomAD |
|
|
rs775954005 CA388208237 |
268 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6985109 rs775954005 |
268 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM190594 rs180865044 CA6985111 |
271 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs763401147 CA6985110 |
271 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 271 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751883203 CA388208260 |
272 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs751883203 CA6985112 |
272 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs894509102 CA388208266 CA249426260 |
273 | K>R | No |
ClinGen Ensembl |
No associated diseases with Q8N5I3
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of delayed rectifier potassium channel activity | Any process that stops, prevents or reduces the frequency, rate or extent of delayed rectifier potassium channel activity. |
| 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 |
| Q9BQ13 | KCTD14 | BTB/POZ domain-containing protein KCTD14 | 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 |
| MSSQELVTLN | VGGKIFTTRF | STIKQFPASR | LARMLDGRDQ | EFKMVGGQIF | VDRDGDLFSF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ILDFLRTHQL | LLPTEFSDYL | RLQREALFYE | LRSLVDLLNP | YLLQPRPALV | EVHFLSRNTQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AFFRVFGSCS | KTIEMLTGRI | TVFTEQPSAP | TWNGNFFPPQ | MTLLPLPPQR | PSYHDLVFQC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GSDSTTDNQT | GVRYVSIKPD | NRKLANGTNV | LGLLIDTLLK | EGFHLVSTRT | VSSEDKTECY |
| 250 | 260 | 270 | |||
| SFERIKSPEV | LITNETPKPE | TIIIPEQSQI | KK |