Q9NVL8
Gene name |
CCDC198 |
Protein name |
Uncharacterized protein CCDC198 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55195 |
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 Q9NVL8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NVL8-F1 | Predicted | AlphaFoldDB |
255 variants for Q9NVL8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA7202083 rs756943054 |
2 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs529772268 CA7202082 |
3 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529772268 CA389845772 |
3 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777561424 CA7202081 |
4 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs755741754 CA7202080 |
5 | H>L | No |
ClinGen ExAC TOPMed |
|
|
CA261568660 rs1018299378 |
6 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs759355354 CA7202076 |
9 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs759752791 CA7202077 |
9 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751396552 CA7202074 |
12 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs751396552 CA389845670 |
12 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7202073 rs766030829 |
15 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA261568608 rs985133420 |
16 | A>V | No |
ClinGen TOPMed |
|
|
rs1459584440 CA389845613 COSM243294 |
17 | P>S | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA7202069 rs140776555 |
20 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7202068 rs776650696 |
21 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1385043953 CA389845462 |
26 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201357909 CA7202064 COSM1748902 |
27 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA261568563 rs201357909 |
27 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs777620715 CA7202062 |
28 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA7202061 rs777620715 |
28 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs755799407 CA7202060 |
30 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs149223383 CA7202059 |
30 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7202058 rs149223383 |
30 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1594830870 CA389845436 |
31 | V>G | No |
ClinGen Ensembl |
|
|
rs1594830863 CA389845431 |
32 | D>G | No |
ClinGen Ensembl |
|
|
rs754957433 CA7202057 |
35 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA389845406 rs555016984 |
36 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA261568482 rs1055486668 |
36 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7202056 rs555016984 |
36 | N>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389845398 rs1244002468 |
37 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA389845388 rs1386299135 |
38 | N>S | No |
ClinGen TOPMed |
|
|
rs1474803734 CA389845375 |
40 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA261568466 rs903828799 |
41 | E>K | No |
ClinGen TOPMed |
|
|
CA7202053 rs146627831 |
43 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1447353445 CA389845344 |
44 | S>L | No |
ClinGen gnomAD |
|
|
rs1042383005 CA261568450 |
45 | Y>C | No |
ClinGen TOPMed |
|
|
rs765473482 CA7202052 |
46 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA389845309 rs1594830619 |
49 | R>G | No |
ClinGen Ensembl |
|
|
rs761973982 CA7202050 |
49 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1386415061 CA389845271 |
51 | Q>R | No |
ClinGen TOPMed |
|
|
CA389845249 rs1272128560 |
52 | D>E | No |
ClinGen gnomAD |
|
|
CA389845237 rs1431816495 |
53 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA389845217 rs1330857474 |
55 | K>I | No |
ClinGen gnomAD |
|
|
rs1301639178 CA389845216 |
55 | K>N | No |
ClinGen gnomAD |
|
|
CA389845212 rs1299550896 |
56 | A>S | No |
ClinGen TOPMed |
|
|
CA389845172 rs1168515573 |
62 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA389845163 rs1416845823 |
63 | P>L | No |
ClinGen gnomAD |
|
|
CA389845166 rs1408861592 |
63 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7202047 rs760800498 |
68 | W>* | No |
ClinGen ExAC |
|
|
rs547387205 CA7202046 |
71 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389845103 rs1229333302 |
72 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA261568391 rs796157180 |
73 | S>P | No |
ClinGen Ensembl |
|
|
CA7202045 rs144484702 |
74 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA261568389 rs144484702 |
74 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1422314071 CA389844649 |
77 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA389844617 rs1371810597 |
78 | D>E | No |
ClinGen TOPMed |
|
|
CA7202034 rs764950635 |
80 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7202032 rs754074506 |
81 | F>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 82 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764363010 CA7202031 |
83 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA261566293 rs200269990 |
84 | P>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 86 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs544713609 CA389844443 |
89 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7202030 rs544713609 COSM3744385 |
89 | E>G | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 89 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389844449 rs1269390866 |
89 | E>Q | No |
ClinGen gnomAD |
|
|
CA7202028 rs775611100 |
90 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7202027 rs768171895 |
93 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760072259 CA7202026 |
95 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs938615075 CA389844343 |
95 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389844333 rs1324690511 |
96 | H>Y | No |
ClinGen gnomAD |
|
|
CA7202025 rs774869771 |
97 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1293230516 CA389844294 |
98 | P>L | No |
ClinGen TOPMed |
|
|
rs145357859 CA7201988 |
105 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1566584241 CA389843444 |
106 | P>S | No |
ClinGen Ensembl |
|
|
rs146784735 CA7201987 |
107 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765567833 CA7201985 |
108 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389843421 rs1383254051 |
109 | L>F | No |
ClinGen TOPMed |
|
|
rs1566584184 CA389843425 |
109 | L>S | No |
ClinGen Ensembl |
|
|
COSM3814973 CA7201983 rs775180996 |
110 | P>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs149798976 CA7201982 |
111 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759085921 CA7201981 |
111 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1425364711 CA389843405 |
112 | V>I | No |
ClinGen gnomAD |
|
|
CA7201980 rs139733112 |
113 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7201979 rs770797743 |
114 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168557535 CA389843373 |
114 | T>P | No |
ClinGen gnomAD |
|
|
rs777436221 CA7201977 |
116 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1038816791 CA261559318 |
118 | L>V | No |
ClinGen Ensembl |
|
|
CA7201976 rs150566449 |
121 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3401363 rs747886419 CA7201975 |
122 | R>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7201974 rs562072722 |
122 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs910036148 CA261559291 |
123 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 124 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 125 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755222944 CA389843206 |
125 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs751722948 CA7201972 |
126 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA389843197 rs1485853962 |
126 | T>S | No |
ClinGen Ensembl |
|
|
rs367641569 CA7201970 |
128 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1304850787 CA389843121 |
130 | A>G | No |
ClinGen gnomAD |
|
|
rs780131468 CA7201954 |
132 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs201110545 CA7201952 |
133 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7201951 rs201110545 |
133 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs758559120 CA389842912 |
133 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7201953 rs758559120 |
133 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA389842837 rs1288657920 |
137 | K>T | No |
ClinGen Ensembl |
|
|
CA389842828 rs888396502 |
138 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA261557982 rs888396502 |
138 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7201947 rs754631919 |
141 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1314421690 CA389842799 |
142 | M>T | No |
ClinGen gnomAD |
|
|
CA389842803 rs1377701624 |
142 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7201946 rs751281239 |
143 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA7201945 rs765934485 |
144 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs866408699 CA261557974 |
146 | E>K | No |
ClinGen Ensembl |
|
|
CA261557971 rs1025090564 |
148 | R>* | No |
ClinGen TOPMed |
|
|
rs765255007 CA7201942 |
150 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs772568923 CA7201943 |
150 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445386275 CA389842726 |
153 | K>E | No |
ClinGen gnomAD |
|
|
rs1566581668 CA389842720 |
153 | K>N | No |
ClinGen Ensembl |
|
|
rs1385179492 CA389842703 |
154 | M>I | No |
ClinGen gnomAD |
|
|
CA261557914 rs776568475 |
154 | M>R | No |
ClinGen ExAC gnomAD |
|
|
COSM698294 CA7201940 rs776568475 |
154 | M>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs201234958 CA261557909 |
156 | V>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA389842687 rs1182376803 |
156 | V>L | No |
ClinGen gnomAD |
|
|
rs1187892581 CA389842680 |
157 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7201938 rs35977877 |
159 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775826016 CA7201937 |
160 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs189684969 CA7201936 |
161 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7201935 rs745990428 |
161 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7201934 rs778808490 |
162 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 163 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389842625 rs1281850518 |
165 | E>D | No |
ClinGen gnomAD |
|
|
CA389842628 rs1466818775 |
165 | E>G | No |
ClinGen Ensembl |
|
|
rs749730596 CA7201931 |
165 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767646481 CA7201911 |
166 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7201912 rs112954258 |
166 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1489394903 CA389842575 |
171 | K>E | No |
ClinGen gnomAD |
|
|
rs889472185 CA261556886 |
171 | K>R | No |
ClinGen TOPMed |
|
|
CA389842532 rs1419912110 |
177 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1436217128 CA389842521 |
178 | A>E | No |
ClinGen gnomAD |
|
|
CA389842508 rs1377544408 |
180 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 180 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs34960436 CA7201906 RCV000238939 |
183 | Q>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs750106322 CA7201905 |
183 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA261556826 rs961009606 |
185 | P>S | No |
ClinGen TOPMed |
|
|
rs961009606 CA389842473 |
185 | P>T | No |
ClinGen TOPMed |
|
|
rs1266438094 CA389842467 |
186 | R>K | No |
ClinGen TOPMed |
|
|
rs1488322196 CA389842453 |
188 | H>D | No |
ClinGen TOPMed |
|
|
CA7201901 rs34786761 |
188 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA261556814 rs751857460 |
189 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs752549069 CA7201899 |
191 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1465779937 CA389842420 |
192 | K>N | No |
ClinGen gnomAD |
|
|
CA389842401 rs1247499310 |
195 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA389842396 rs1404922793 |
196 | S>I | No |
ClinGen gnomAD |
|
|
CA7201896 rs774495205 |
198 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA261556779 rs759817234 |
199 | R>K | No |
ClinGen Ensembl |
|
|
CA7201894 rs771120243 |
200 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs763063809 CA7201893 |
202 | D>E | No |
ClinGen ExAC TOPMed |
|
|
CA261556763 rs369138268 |
202 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1261517699 CA389842304 |
204 | D>E | No |
ClinGen gnomAD |
|
|
rs770310584 CA7201891 |
204 | D>N | No |
ClinGen ExAC |
|
|
rs748549020 CA7201890 |
204 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1212608075 CA389842298 |
205 | L>I | No |
ClinGen gnomAD |
|
|
CA389842279 rs1456140600 |
206 | L>V | No |
ClinGen TOPMed |
|
|
CA389842261 rs1333117556 |
207 | T>N | No |
ClinGen TOPMed |
|
|
CA261556742 rs1056812053 |
208 | M>T | No |
ClinGen TOPMed |
|
|
CA261556747 rs1028616938 |
208 | M>V | No |
ClinGen Ensembl |
|
|
rs1445929560 CA389842216 |
210 | P>T | No |
ClinGen TOPMed |
|
|
rs781718635 CA7201888 |
211 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA389842168 rs1222599611 |
212 | E>D | No |
ClinGen gnomAD |
|
|
CA7201886 rs747373215 |
215 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149520479 CA7201885 |
217 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748829551 CA7201883 |
218 | P>L | No |
ClinGen ExAC |
|
|
rs1485926698 CA389840665 |
219 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7201881 rs563276311 |
219 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7201819 rs776014232 |
222 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351167088 CA389840623 |
225 | E>A | No |
ClinGen gnomAD |
|
|
CA7201818 CA7201817 rs777948627 |
225 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433662513 CA389840626 |
225 | E>K | No |
ClinGen gnomAD |
|
|
CA7201814 rs137965995 |
227 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7201813 rs771954185 |
228 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs745681639 CA7201812 |
229 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1172484397 CA389840596 |
229 | H>R | No |
ClinGen gnomAD |
|
|
CA7201811 rs757423243 |
230 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA7201810 rs757423243 |
230 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA389840577 rs1194193011 |
232 | V>A | No |
ClinGen TOPMed |
|
|
rs1189449784 CA389840566 |
234 | N>D | No |
ClinGen gnomAD |
|
|
VAR_024310 rs1152530 CA7201809 |
235 | Y>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1152530 CA389840555 |
235 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1152530 CA389840556 |
235 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA261549756 rs375624300 |
236 | C>G | No |
ClinGen ESP ExAC TOPMed |
|
|
rs375624300 CA7201808 |
236 | C>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA7201807 rs756311833 |
236 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA389840545 rs1178126362 |
237 | P>S | No |
ClinGen gnomAD |
|
|
CA7201806 CA389840541 rs369678249 |
238 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7201805 rs141059426 |
240 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760072327 CA7201804 |
241 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA389840499 rs1312040276 |
241 | G>S | No |
ClinGen gnomAD |
|
|
CA389840486 rs1221475870 |
242 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389840468 rs1368958674 |
243 | M>T | No |
ClinGen gnomAD |
|
|
CA261549699 rs201420652 |
246 | W>C | No |
ClinGen 1000Genomes gnomAD |
|
|
rs369248135 CA7201803 |
246 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1374191015 CA389840410 |
247 | L>F | No |
ClinGen gnomAD |
|
|
CA389840407 rs1225094376 |
247 | L>P | No |
ClinGen gnomAD |
|
|
rs202244661 CA7201801 |
248 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146602887 CA7201802 COSM1707380 |
248 | H>Y | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA389840337 rs1370839572 |
252 | A>G | No |
ClinGen TOPMed |
|
|
rs776407104 CA7201800 |
252 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776407104 CA389840345 |
252 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755772802 CA261549686 |
254 | G>* | No |
ClinGen Ensembl |
|
|
rs768263330 CA7201799 |
255 | Q>L | No |
ClinGen ExAC |
|
|
rs984274565 CA261549676 |
256 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 257 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389840259 rs200420976 |
259 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200420976 CA7201798 |
259 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774929547 COSM401485 CA7201797 |
260 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1158053136 CA389840236 |
260 | S>N | No |
ClinGen gnomAD |
|
|
CA261549668 rs1025979974 |
261 | S>P | No |
ClinGen Ensembl |
|
|
rs1437980878 CA389840212 |
262 | S>N | No |
ClinGen gnomAD |
|
|
rs993131070 CA261549648 |
264 | D>H | No |
ClinGen Ensembl |
|
|
CA261549634 rs571261292 |
265 | S>P | No |
ClinGen Ensembl |
|
|
CA389840139 rs1483112021 |
267 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs181050215 CA7201795 |
267 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774148887 CA7201794 |
268 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs774148887 CA389840132 |
268 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA389840121 rs1173466856 |
269 | G>R | No |
ClinGen Ensembl |
|
|
CA7201792 rs749013253 |
271 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7201791 rs778097592 |
274 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389840043 rs778097592 |
274 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144453893 CA7201789 |
276 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748261627 CA389840020 |
276 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7201788 rs748261627 |
276 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389840014 rs1378017201 |
277 | A>G | No |
ClinGen gnomAD |
|
|
CA7201787 rs781366514 |
277 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1152531 CA389839980 |
280 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367897577 CA261549519 |
282 | R>G | No |
ClinGen ESP |
|
|
rs758833561 CA7201783 |
282 | R>K | No |
ClinGen ExAC |
|
|
CA389839937 rs1464831327 |
284 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 284 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1052487725 CA261549484 |
286 | I>V | No |
ClinGen Ensembl |
|
|
CA389839890 rs1423417431 |
287 | P>L | No |
ClinGen gnomAD |
|
|
CA7201777 rs760259322 |
288 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA389839851 rs1489572855 |
290 | D>E | No |
ClinGen gnomAD |
|
|
CA389839856 rs1197754042 |
290 | D>G | No |
ClinGen gnomAD |
|
|
CA7201775 rs200992969 |
290 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201407662 CA7201773 |
291 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7201774 rs201407662 |
291 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7201771 rs749139861 |
292 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389839829 rs1310220128 |
292 | F>Y | No |
ClinGen gnomAD |
|
|
rs948316316 CA261549427 |
293 | F>L | No |
ClinGen Ensembl |
|
|
CA389839804 rs1566567390 |
294 | D>Y | No |
ClinGen Ensembl |
|
|
CA7201769 rs773095015 |
295 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs770154918 CA7201768 |
296 | E>K | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9NVL8
No regional properties for Q9NVL8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NVL8 | |||
Functions
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 |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGLSHSKTHL | RVIKVAPLQN | KEVETPSAGR | VDFAFNQNLE | EKTSYSLARL | QDQNKALEGQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LPPLQENWYG | RYSTASRDMY | FDIPLEHRET | SIIKRHPPQR | LQKLEPIDLP | RVITSGRLLS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QREARTMHKA | KQVLEKKMQT | PMYTSENRQY | LHKMQVLEMI | RKRQEAQMEL | KKSLHGEARI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NKQSPRDHKA | KKTLQSTPRN | DDHDLLTMLP | DEILNRGPGN | SKNTEFLKHQ | AVNNYCPWKI |
| 250 | 260 | 270 | 280 | 290 | |
| GKMETWLHEQ | EAQGQLLWDS | SSSDSDEQGK | DEKKPRALVR | TRTERIPLFD | EFFDQE |