Q6ZVZ8
PR
Gene name |
ASB18 |
Protein name |
Ankyrin repeat and SOCS box protein 18 |
Names |
ASB-18 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:401036 |
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 Q6ZVZ8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6ZVZ8-F1 | Predicted | AlphaFoldDB |
458 variants for Q6ZVZ8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2185875 rs748903039 |
2 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs769363208 CA351173333 |
4 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2185873 rs769363208 |
4 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351173320 rs1574677000 |
6 | Y>S | No |
ClinGen Ensembl |
|
|
CA351173308 rs1402476426 |
8 | P>L | No |
ClinGen TOPMed |
|
|
rs757142011 CA2185870 |
8 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777525281 CA2185867 |
9 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2185866 rs758638427 |
10 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1387276977 CA351173296 |
10 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2185865 rs200159870 |
11 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351173289 rs1318308540 |
11 | P>S | No |
ClinGen TOPMed |
|
|
CA351173284 rs1245104059 |
12 | L>F | No |
ClinGen TOPMed |
|
|
CA2185864 rs765301252 |
13 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs759551732 CA2185862 |
14 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353704520 CA351173254 |
16 | L>F | No |
ClinGen TOPMed |
|
|
COSM335169 rs886990228 CA67758696 |
17 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2185860 rs766976276 |
22 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA351173218 rs766976276 |
22 | S>P | No |
ClinGen ExAC gnomAD |
|
|
COSM3938995 CA2185859 rs373891164 |
23 | A>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs772526346 CA2185858 |
26 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2185857 rs772526346 |
26 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1207323761 CA351173148 |
32 | V>A | No |
ClinGen TOPMed |
|
|
rs370407156 CA2185855 |
33 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2185854 rs769557775 |
34 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs567154088 CA2185853 |
35 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 35 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351173114 rs1298926541 |
37 | C>* | No |
ClinGen gnomAD |
|
|
rs1462017701 CA351173110 |
38 | T>S | No |
ClinGen TOPMed |
|
|
rs114032546 CA2185850 |
41 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2185847 rs752926013 |
43 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2185843 rs376276467 |
45 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2185844 rs376276467 |
45 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs761277523 CA2185842 |
46 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs761277523 CA67758518 |
46 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1456641710 CA351173054 |
47 | I>T | No |
ClinGen TOPMed |
|
|
rs1488241427 CA351173052 |
48 | E>Q | No |
ClinGen gnomAD |
|
|
CA351173041 rs1261583610 |
49 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1261583610 CA351173042 |
49 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1282081830 CA351173036 |
50 | A>D | No |
ClinGen gnomAD |
|
|
rs1396369553 CA351173032 |
51 | N>D | No |
ClinGen TOPMed |
|
|
rs199792062 CA2185840 |
52 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2185838 rs762327221 |
53 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs762327221 CA351173017 |
53 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA351173000 rs1341816499 |
55 | M>K | No |
ClinGen gnomAD |
|
|
CA2185837 rs774855512 |
55 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA67758458 rs867591634 |
56 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1218031107 CA351172982 |
57 | D>V | No |
ClinGen gnomAD |
|
|
CA2185835 rs149073271 |
59 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2185836 rs149073271 |
59 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351172959 rs1349063608 |
61 | Q>R | No |
ClinGen gnomAD |
|
|
CA2185833 rs770304802 |
62 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406517353 CA351172947 |
63 | P>L | No |
ClinGen gnomAD |
|
|
COSM1018255 CA2185832 rs746968566 |
63 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1430828679 CA351172938 |
65 | G>D | No |
ClinGen gnomAD |
|
|
rs192942786 CA2185831 |
65 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1200213603 CA351172930 |
66 | M>I | No |
ClinGen TOPMed |
|
|
rs771980462 CA2185830 |
66 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351172919 rs1276840436 |
68 | L>P | No |
ClinGen TOPMed |
|
|
CA2185829 rs748002810 |
69 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1186938004 CA351172895 |
70 | D>H | No |
ClinGen TOPMed |
|
|
rs372467826 CA67753438 |
72 | D>H | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA2185774 rs372467826 COSM1306580 |
72 | D>N | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
CA351172875 rs1178842629 |
73 | H>D | No |
ClinGen gnomAD |
|
|
rs565020246 CA67753429 |
73 | H>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA2185773 rs762929132 |
74 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs199776358 CA2185772 |
75 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2185771 rs368156812 |
78 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759847085 CA2185770 |
79 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867511468 CA67753408 |
80 | Q>* | No |
ClinGen Ensembl |
|
|
CA351172815 rs1233184012 |
82 | F>L | No |
ClinGen gnomAD |
|
|
rs532131685 CA67753407 |
83 | Q>R | No |
ClinGen 1000Genomes |
|
|
CA2185769 rs374792469 |
84 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1311966081 CA351172789 |
85 | A>G | No |
ClinGen gnomAD |
|
|
rs560027825 CA67753395 |
86 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 86 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2185768 rs560027825 |
86 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2185766 rs777875813 |
87 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs772503213 CA2185765 |
88 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779176737 CA2185763 |
91 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1381903700 CA351172752 |
91 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA351172720 rs1373967265 |
95 | E>D | No |
ClinGen gnomAD |
|
|
rs755268582 CA2185762 |
95 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1438866507 CA351172716 |
96 | M>K | No |
ClinGen gnomAD |
|
|
CA2185761 rs754189904 |
97 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA351172700 rs1243782037 |
98 | W>* | No |
ClinGen TOPMed |
|
|
rs1173252745 CA351172697 |
98 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA351172696 rs1173252745 |
98 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201821894 CA2185760 |
99 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201629003 CA351172683 |
100 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2185757 rs201629003 |
100 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2185758 rs540201109 |
100 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763613126 CA2185756 |
101 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA351172673 rs1288592679 |
102 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA351172672 rs1288592679 |
102 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs752616922 CA2185755 |
102 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2185754 rs752616922 |
102 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 102 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351172665 rs6756597 |
104 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_048289 CA2185752 rs6756597 |
104 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2185751 rs776559851 |
104 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2185750 rs374387443 |
105 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1443277038 CA351172652 |
106 | F>S | No |
ClinGen TOPMed |
|
|
CA351172644 rs1490359618 |
107 | G>E | No |
ClinGen gnomAD |
|
|
rs1412854330 CA351172640 |
108 | L>Q | No |
ClinGen gnomAD |
|
|
CA351172617 rs1242318861 |
110 | G>A | No |
ClinGen TOPMed |
|
|
CA351172613 rs1301571010 |
111 | L>F | No |
ClinGen gnomAD |
|
|
CA351172592 rs1404567135 |
114 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1397736773 CA351172583 |
115 | E>D | No |
ClinGen gnomAD |
|
|
CA351172574 rs1240715364 |
116 | Y>* | No |
ClinGen gnomAD |
|
|
CA351172581 rs1475398442 |
116 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA67750994 rs904219804 |
118 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA67750987 rs370762621 |
118 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA67750985 rs370762621 |
118 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1212078334 CA351172555 |
119 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA351172548 rs1576406763 |
121 | T>P | No |
ClinGen Ensembl |
|
|
rs1320064425 CA351172539 |
122 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA351172528 rs1373040792 |
124 | L>R | No |
ClinGen gnomAD |
|
|
CA351172519 rs1217927405 |
125 | C>* | No |
ClinGen gnomAD |
|
|
rs7588748 VAR_037331 |
127 | A>P | No |
UniProt dbSNP |
|
|
rs1276556588 CA351172486 |
130 | H>Q | No |
ClinGen gnomAD |
|
|
CA351172483 rs1436854464 |
131 | G>R | No |
ClinGen gnomAD |
|
|
rs1349124210 CA351172469 |
133 | T>A | No |
ClinGen gnomAD |
|
|
CA67750973 rs974881230 |
133 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1349124210 CA351172470 |
133 | T>P | No |
ClinGen gnomAD |
|
|
rs34171031 CA67750971 |
134 | A>D | No |
ClinGen Ensembl |
|
|
rs1466909045 CA351172455 |
135 | C>F | No |
ClinGen gnomAD |
|
|
rs1177723603 CA351172439 |
138 | H>Y | No |
ClinGen gnomAD |
|
|
rs942456366 CA67750965 |
139 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs986497503 CA67750949 |
141 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs986497503 CA351172422 |
141 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs760836174 CA2185729 |
142 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA351172413 rs1436033890 |
143 | G>S | No |
ClinGen TOPMed |
|
|
CA351172403 rs1576406724 |
144 | A>G | No |
ClinGen Ensembl |
|
|
rs1252814031 CA351172405 |
144 | A>S | No |
ClinGen gnomAD |
|
|
rs1010001129 CA67750933 |
146 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1258776255 CA351172386 |
147 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA351172377 rs1203831506 |
148 | A>D | No |
ClinGen gnomAD |
|
|
rs951098317 CA67750929 |
148 | A>P | No |
ClinGen TOPMed |
|
|
rs773417237 CA2185728 |
149 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1336107042 CA351172364 |
150 | P>H | No |
ClinGen TOPMed |
|
|
CA67750927 rs1025292025 |
152 | G>R | No |
ClinGen TOPMed |
|
|
rs1559335293 CA351172349 |
153 | R>C | No |
ClinGen Ensembl |
|
|
CA67750916 rs974423803 |
156 | L>P | No |
ClinGen TOPMed |
|
|
rs1366619475 CA351172329 |
157 | H>Y | No |
ClinGen gnomAD |
|
|
CA351172321 rs1448530890 |
158 | E>K | No |
ClinGen gnomAD |
|
|
CA351172311 rs1313693933 |
159 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1180356533 CA351172306 |
160 | C>R | No |
ClinGen TOPMed |
|
|
rs1252982650 CA351172288 |
162 | G>E | No |
ClinGen TOPMed |
|
|
CA351172293 rs1330283143 |
162 | G>R | No |
ClinGen gnomAD |
|
|
rs1330283143 CA351172291 |
162 | G>W | No |
ClinGen gnomAD |
|
|
CA351172279 rs1360411909 |
164 | H>N | No |
ClinGen gnomAD |
|
|
CA351172266 rs1415585357 |
166 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA351172260 rs1394850482 |
167 | C>R | No |
ClinGen gnomAD |
|
|
CA351172245 rs1378987705 |
169 | R>C | No |
ClinGen TOPMed |
|
|
rs1224016129 CA351172214 |
174 | H>R | No |
ClinGen gnomAD |
|
|
CA2185724 rs576455039 |
174 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351172209 rs1479673282 |
175 | R>S | No |
ClinGen gnomAD |
|
|
rs1464148863 CA351172203 |
176 | A>P | No |
ClinGen TOPMed |
|
|
rs1001329611 CA67750895 |
178 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA351172166 rs1445762230 |
182 | S>G | No |
ClinGen TOPMed |
|
|
rs1241976501 CA351172162 |
182 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA351172160 rs1354156978 |
182 | S>R | No |
ClinGen gnomAD |
|
|
CA67750886 rs562977794 |
183 | A>T | No |
ClinGen 1000Genomes |
|
|
rs749748728 CA2185722 |
183 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA351172152 rs1380666874 |
184 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA351172153 rs1380666874 |
184 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2185720 rs770131834 |
187 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA351172125 rs1375309830 |
188 | P>L | No |
ClinGen gnomAD |
|
|
CA67750868 rs1010256480 |
189 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA351172122 rs1010256480 |
189 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA351172116 rs1471239423 |
190 | H>R | No |
ClinGen gnomAD |
|
|
rs1421861213 CA351172120 |
190 | H>Y | No |
ClinGen gnomAD |
|
|
rs1381346919 CA351172110 |
191 | L>F | No |
ClinGen gnomAD |
|
|
rs1198343060 CA351172109 |
191 | L>H | No |
ClinGen TOPMed |
|
|
rs1417603292 CA351172104 |
192 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA351172105 rs1417603292 |
192 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1425131935 CA351172097 |
193 | R>G | No |
ClinGen TOPMed |
|
|
CA351172093 rs1416050168 |
193 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351172083 rs1576406582 |
195 | A>D | No |
ClinGen Ensembl |
|
|
rs757979546 CA2185716 |
196 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA351172072 rs1255235490 |
197 | S>* | No |
ClinGen gnomAD |
|
|
rs1488481358 CA351172068 |
198 | L>V | No |
ClinGen gnomAD |
|
|
CA351172040 rs1159422890 |
200 | C>* | No |
ClinGen TOPMed |
|
|
CA351172033 rs1454860879 |
201 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1336594620 CA351172024 |
203 | A>T | No |
ClinGen TOPMed |
|
|
rs1334033743 CA351172019 |
203 | A>V | No |
ClinGen gnomAD |
|
|
rs992941985 CA67737934 |
205 | L>Q | No |
ClinGen TOPMed |
|
|
rs960093731 CA67737926 |
206 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1327589521 CA351172003 |
206 | E>D | No |
ClinGen gnomAD |
|
|
rs1310472754 CA351171998 |
207 | H>R | No |
ClinGen TOPMed |
|
|
rs1576398671 CA351171993 |
208 | G>E | No |
ClinGen Ensembl |
|
|
CA67737920 rs374319025 |
208 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA67737919 rs374319025 |
208 | G>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 211 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1417471373 CA351171954 |
214 | V>A | No |
ClinGen gnomAD |
|
|
CA351171949 rs1363398923 |
215 | G>A | No |
ClinGen TOPMed |
|
|
CA67737884 rs1030441984 |
215 | G>C | No |
ClinGen TOPMed |
|
|
rs1030441984 CA351171952 |
215 | G>S | No |
ClinGen TOPMed |
|
|
CA67737880 rs570889823 |
216 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA351171936 rs1396076004 |
218 | G>S | No |
ClinGen TOPMed |
|
|
CA351171928 rs1172385724 |
219 | R>Q | No |
ClinGen TOPMed |
|
|
rs1434643366 CA351171929 |
219 | R>W | No |
ClinGen TOPMed |
|
|
CA351171925 rs1370220327 |
220 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA351171923 rs1370220327 |
220 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA351171907 rs1333562731 |
222 | P>R | No |
ClinGen TOPMed |
|
|
CA2185706 rs751662212 |
223 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1346954670 CA351171889 |
225 | V>G | No |
ClinGen TOPMed |
|
|
rs900947410 CA67737869 |
225 | V>M | No |
ClinGen TOPMed |
|
|
CA351171883 rs1241223578 |
226 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1186726106 CA351171867 |
229 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1015310630 CA67737865 |
229 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1004290536 CA67737859 |
230 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA351171856 rs1196407590 |
231 | L>P | No |
ClinGen TOPMed |
|
|
CA16042405 rs1057518421 RCV000414755 |
232 | D>H | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA351171853 rs1057518421 |
232 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs888119390 CA67737842 |
233 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1392367273 CA351171829 |
235 | A>S | No |
ClinGen gnomAD |
|
|
CA351171820 rs1195809716 |
236 | R>L | No |
ClinGen TOPMed |
|
|
CA67737831 rs948652878 |
237 | L>P | No |
ClinGen TOPMed |
|
|
rs1454149606 CA351171814 |
238 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 240 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs56247246 CA67737827 |
241 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs56247246 CA2185705 |
241 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs938468414 CA67737820 |
242 | G>R | No |
ClinGen TOPMed |
|
|
CA351171784 rs1190969560 |
243 | A>E | No |
ClinGen gnomAD |
|
|
rs1248659785 CA351171787 |
243 | A>T | No |
ClinGen gnomAD |
|
|
CA351171782 rs1190969560 |
243 | A>V | No |
ClinGen gnomAD |
|
|
rs763458414 CA2185704 |
251 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284173927 CA351171723 |
252 | G>A | No |
ClinGen gnomAD |
|
|
CA351171725 rs1393775384 |
252 | G>R | No |
ClinGen TOPMed |
|
|
CA351171715 rs1326228700 |
253 | E>D | No |
ClinGen TOPMed |
|
|
rs1432069863 CA351171721 |
253 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA351171708 rs1438391715 |
254 | T>M | No |
ClinGen TOPMed |
|
|
CA351171702 rs1326566444 |
255 | A>D | No |
ClinGen gnomAD |
|
|
rs1576398564 CA351171689 |
257 | S>R | No |
ClinGen Ensembl |
|
|
rs1198663841 CA351171686 |
258 | A>S | No |
ClinGen gnomAD |
|
|
CA351171683 rs1299574392 |
258 | A>V | No |
ClinGen TOPMed |
|
|
rs1576398556 CA351171675 |
260 | C>R | No |
ClinGen Ensembl |
|
|
rs6431437 CA351171668 |
261 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2185703 rs6431437 VAR_059128 COSM1172860 |
261 | G>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1225909064 CA351171665 |
261 | G>V | No |
ClinGen gnomAD |
|
|
rs1314275748 CA351171658 |
262 | A>V | No |
ClinGen gnomAD |
|
|
rs1304708024 CA351171648 |
264 | R>L | No |
ClinGen gnomAD |
|
|
CA351171643 rs1359540029 |
265 | R>T | No |
ClinGen gnomAD |
|
|
rs1193165489 CA351171627 |
267 | D>E | No |
ClinGen TOPMed |
|
|
rs1264300713 CA351171631 |
267 | D>N | No |
ClinGen TOPMed |
|
|
CA351171621 rs1370819212 |
268 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 271 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1440429378 CA351171598 |
271 | R>H | No |
ClinGen gnomAD |
|
|
rs1393215836 CA351171593 |
272 | C>F | No |
ClinGen TOPMed |
|
|
rs986815021 CA351171597 |
272 | C>R | No |
ClinGen TOPMed |
|
|
CA67737806 rs986815021 |
272 | C>S | No |
ClinGen TOPMed |
|
|
CA67737801 rs953610373 |
273 | L>V | No |
ClinGen TOPMed |
|
|
CA351171583 rs1368977223 |
274 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA351171581 rs1368977223 |
274 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1030515431 CA67737792 |
277 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA351171563 rs1395888503 |
277 | A>V | No |
ClinGen gnomAD |
|
|
CA351171549 rs1334354875 |
280 | L>P | No |
ClinGen TOPMed |
|
|
CA351171548 rs1334354875 |
280 | L>R | No |
ClinGen TOPMed |
|
|
CA351171544 rs1262848600 |
281 | R>Q | No |
ClinGen TOPMed |
|
|
rs1166063591 CA351171546 |
281 | R>W | No |
ClinGen gnomAD |
|
|
rs1576398491 CA351171533 |
283 | G>A | No |
ClinGen Ensembl |
|
|
rs1015800358 CA67737780 |
283 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA351171531 rs1486953547 |
284 | A>T | No |
ClinGen TOPMed |
|
|
rs1003961132 CA67737776 |
285 | E>K | No |
ClinGen TOPMed |
|
|
CA351171514 rs1416533630 |
286 | A>V | No |
ClinGen TOPMed |
|
|
CA351171512 rs1172850110 |
287 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA351171504 rs1452359445 |
288 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA67737754 rs147888546 |
289 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA351171498 rs147888546 |
289 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1239547448 CA351171483 |
291 | E>* | No |
ClinGen gnomAD |
|
|
rs888139351 CA67737749 |
291 | E>G | No |
ClinGen TOPMed |
|
|
rs1239547448 CA351171484 |
291 | E>Q | No |
ClinGen gnomAD |
|
|
CA351171469 rs1404186880 |
293 | E>K | No |
ClinGen TOPMed |
|
|
CA351171450 rs1269892200 |
295 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA67737737 rs13427406 |
297 | L>M | No |
ClinGen Ensembl |
|
|
CA2185702 rs529127050 |
297 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351171430 rs1309471998 |
299 | K>E | No |
ClinGen TOPMed |
|
|
rs760008402 CA2185701 |
300 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA351171418 rs1489972644 |
301 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 302 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317777398 CA351171408 |
302 | G>S | No |
ClinGen TOPMed |
|
|
rs1238720256 CA351171403 |
303 | H>D | No |
ClinGen TOPMed |
|
| TCGA novel | 304 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 304 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347819202 CA351171382 |
306 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 307 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281682268 CA351171371 |
307 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1233934901 CA351171359 |
309 | A>S | No |
ClinGen gnomAD |
|
|
CA351171356 rs1346201314 |
309 | A>V | No |
ClinGen gnomAD |
|
|
rs1342097719 CA351171352 |
310 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1342097719 CA351171350 |
310 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1484434371 CA351171347 |
311 | L>F | No |
ClinGen TOPMed |
|
|
rs1311673132 CA351171342 |
312 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA351171335 rs1012564677 |
313 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA67737713 rs1012564677 |
313 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs894411374 CA351171331 |
314 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs894411374 CA67737705 |
314 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1397704766 CA351171319 |
316 | G>D | No |
ClinGen gnomAD |
|
|
rs1312205536 CA351171314 |
317 | A>T | No |
ClinGen gnomAD |
|
|
CA2185698 rs747751719 |
317 | A>V | No |
ClinGen ExAC |
|
|
CA351171305 rs1158767039 |
318 | D>E | No |
ClinGen gnomAD |
|
|
CA351171311 rs1381965603 |
318 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 320 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA67737638 rs563334671 |
321 | A>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA2185696 rs768212844 |
321 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA351171288 rs563334671 |
321 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1350577201 CA351171283 |
322 | L>P | No |
ClinGen TOPMed |
|
|
rs1346385794 CA351171277 |
323 | D>A | No |
ClinGen TOPMed |
|
|
rs1042227458 CA351171269 |
324 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA67737587 rs1042227458 |
324 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755975047 CA2185693 |
325 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA351171259 rs1350308802 |
326 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA67737578 rs996204691 |
327 | A>G | No |
ClinGen gnomAD |
|
|
CA351171254 rs1278021800 |
327 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA351171255 rs1278021800 |
327 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA351171251 rs996204691 |
327 | A>V | No |
ClinGen gnomAD |
|
|
rs1292548272 CA351171246 |
328 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1292548272 CA351171247 |
328 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA351171244 rs1362212488 |
329 | P>T | No |
ClinGen gnomAD |
|
|
CA351171226 rs1421606916 |
332 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs750281547 CA2185692 |
332 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1421606916 CA351171227 |
332 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1475218893 CA351171222 |
333 | V>M | No |
ClinGen gnomAD |
|
|
CA67737574 rs914578484 |
335 | Q>K | No |
ClinGen TOPMed |
|
|
CA2185690 rs757532414 |
335 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
rs1474552993 CA351171196 |
337 | A>S | No |
ClinGen gnomAD |
|
|
CA351171198 rs1474552993 |
337 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA67737571 rs970104910 |
337 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA351171190 rs751717266 |
338 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751717266 CA2185688 |
338 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA351171193 rs1194277960 |
338 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA351171189 rs751717266 |
338 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211881171 CA351171186 |
339 | C>G | No |
ClinGen gnomAD |
|
|
CA351171172 rs1272671354 |
341 | L>F | No |
ClinGen gnomAD |
|
|
rs763082181 CA2185686 |
341 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270701297 CA351171158 |
343 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 343 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351171132 rs1468660874 |
347 | R>H | No |
ClinGen TOPMed |
|
|
CA351171129 rs1325083709 |
348 | T>A | No |
ClinGen gnomAD |
|
|
rs1461675990 CA351171125 |
348 | T>R | No |
ClinGen gnomAD |
|
|
CA67737530 rs976303787 |
349 | V>L | No |
ClinGen TOPMed |
|
|
CA351171115 rs1476349597 |
350 | Q>L | No |
ClinGen TOPMed |
|
|
rs563760568 CA2185682 |
351 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs563760568 CA351171106 |
351 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1466747619 CA351171099 |
353 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2185681 rs771157354 |
353 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2185680 rs761560763 |
354 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA351171084 rs1240770733 |
355 | H>L | No |
ClinGen gnomAD |
|
|
rs774088202 CA2185679 |
355 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs748848119 CA2185677 |
357 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1428040507 CA351171075 |
357 | S>T | No |
ClinGen TOPMed |
|
|
rs1252623069 CA351171067 |
358 | P>H | No |
ClinGen gnomAD |
|
|
CA351171065 rs1252623069 |
358 | P>L | No |
ClinGen gnomAD |
|
|
CA351171070 rs1396907148 |
358 | P>T | No |
ClinGen TOPMed |
|
|
CA67737473 rs866669632 |
359 | T>N | No |
ClinGen Ensembl |
|
|
rs1325639915 CA351171055 |
360 | V>A | No |
ClinGen TOPMed |
|
|
CA351171054 rs1325639915 |
360 | V>G | No |
ClinGen TOPMed |
|
|
CA2185675 rs769794479 |
362 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1273565821 CA351171038 |
363 | D>H | No |
ClinGen gnomAD |
|
|
CA351171039 rs1273565821 |
363 | D>N | No |
ClinGen gnomAD |
|
|
CA67737426 rs572054643 |
364 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs572054643 CA2185673 |
364 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2185674 rs745755389 |
364 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745755389 CA67737433 |
364 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745755389 CA67737448 |
364 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351171026 rs1369719494 |
365 | F>S | No |
ClinGen gnomAD |
|
|
rs746797021 CA2185670 |
366 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746797021 CA2185671 |
366 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA67737399 rs866898276 |
367 | K>N | No |
ClinGen TOPMed |
|
|
CA351171018 rs1354636316 |
367 | K>Q | No |
ClinGen gnomAD |
|
|
CA2185669 rs778041281 |
367 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1396766927 CA351170976 |
371 | T>N | No |
ClinGen TOPMed |
|
|
rs1277972885 CA351170970 |
372 | C>S | No |
ClinGen gnomAD |
|
|
rs777517326 CA2185651 |
375 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571890106 CA2185649 |
377 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779052291 CA2185648 |
377 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA351170928 rs372187489 |
379 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA67723583 rs1041375398 |
379 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA351170930 rs1041375398 |
379 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1415977751 CA351170932 |
379 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs868080419 CA67723577 |
380 | E>D | No |
ClinGen Ensembl |
|
|
CA351170927 rs1455683839 |
380 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 382 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345944644 CA351170896 |
384 | N>S | No |
ClinGen gnomAD |
|
|
CA351170877 rs1398978090 |
387 | P>A | No |
ClinGen gnomAD |
|
|
CA351170876 rs1398978090 |
387 | P>S | No |
ClinGen gnomAD |
|
|
CA2185645 rs555412834 |
390 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA67723546 rs555412834 |
390 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2185644 rs756667427 |
393 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1187988623 CA351170822 |
395 | W>* | No |
ClinGen gnomAD |
|
|
rs1486089240 CA351170820 |
395 | W>* | No |
ClinGen gnomAD |
|
|
CA351170809 rs1259731084 |
397 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA351170793 rs1230713527 |
399 | I>T | No |
ClinGen Ensembl |
|
|
CA2185642 rs368003588 |
399 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767955352 CA2185641 |
400 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA351170784 rs1173465405 |
401 | E>K | No |
ClinGen TOPMed |
|
|
rs1576391530 CA351170776 |
402 | E>Q | No |
ClinGen Ensembl |
|
|
CA351170764 rs1273338771 |
403 | V>A | No |
ClinGen gnomAD |
|
|
rs999780060 CA67723487 |
404 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2185621 rs757623786 |
406 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs10177957 CA2185619 VAR_048290 |
407 | H>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs759209474 CA351170521 CA2185618 |
407 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs10177957 CA2185620 |
407 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs538462078 COSM3695352 CA2185617 |
409 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs538462078 CA351170509 |
409 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA67722237 rs1042745991 |
411 | Y>C | No |
ClinGen Ensembl |
|
|
rs1245532977 CA351170489 |
412 | Q>R | No |
ClinGen gnomAD |
|
|
rs773073926 CA2185614 |
413 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771982529 CA2185613 |
414 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1285789839 CA351170470 |
415 | F>S | No |
ClinGen TOPMed |
|
|
rs1553598135 CA351170464 |
416 | A>S | No |
ClinGen Ensembl |
|
|
CA351170453 rs1218184304 |
418 | A>T | No |
ClinGen TOPMed |
|
|
CA2185611 rs774164439 |
419 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA351170441 rs1576390934 |
420 | T>P | No |
ClinGen Ensembl |
|
|
CA67722158 rs768808929 |
421 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768808929 CA2185610 |
421 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2185609 rs368677469 |
422 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200718582 CA2185607 |
422 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200718582 CA351170430 |
422 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2185608 rs200718582 |
422 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1375891567 CA351170423 |
423 | C>* | No |
ClinGen gnomAD |
|
|
rs781782407 CA2185605 |
424 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351170415 rs1476875507 |
425 | Q>* | No |
ClinGen gnomAD |
|
|
rs757755277 CA2185604 |
426 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1365020605 CA351170407 |
426 | H>Y | No |
ClinGen gnomAD |
|
|
CA2185602 rs77949726 |
429 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000413286 rs376567222 CA2185601 |
429 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs376567222 CA351170386 |
429 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1486838542 CA351170383 |
430 | C>R | No |
ClinGen gnomAD |
|
|
rs370331826 CA2185599 |
432 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201441236 CA2185598 |
433 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1406513 rs749930126 CA2185597 |
433 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs200571734 CA2185596 |
434 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 437 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 438 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774046311 CA2185594 |
439 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA67722047 rs971186011 |
441 | F>S | No |
ClinGen Ensembl |
|
|
CA351170291 rs1158822454 |
444 | I>F | No |
ClinGen gnomAD |
|
|
rs763282505 CA2185592 |
444 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351170288 rs1452401281 |
444 | I>S | No |
ClinGen gnomAD |
|
|
COSM1406512 CA351170292 rs1158822454 |
444 | I>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA351170257 rs770138448 |
449 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351170256 rs1187596348 |
450 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 451 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 452 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs915693208 CA67721979 |
453 | L>R | No |
ClinGen Ensembl |
|
|
CA351170232 rs1286544285 |
454 | Q>* | No |
ClinGen gnomAD |
|
|
CA351170213 rs1576390845 |
456 | Y>S | No |
ClinGen Ensembl |
|
|
rs771367958 CA2185586 |
457 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs749031517 CA2185585 |
461 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA67721941 rs749031517 |
461 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs371118994 CA2185584 |
462 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748497331 CA351170169 |
463 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1032796815 CA67721915 |
463 | G>S | No |
ClinGen Ensembl |
|
|
rs748497331 CA2185582 |
463 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA351170168 rs1328005805 |
464 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA67721876 rs998789772 |
465 | L>F | No |
ClinGen Ensembl |
No associated diseases with Q6ZVZ8
1 regional properties for Q6ZVZ8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Basic-leucine zipper domain | 272 - 337 | IPR004827 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q04861 | NFKB1 | Nuclear factor NF-kappa-B p105 subunit | Gallus gallus (Chicken) | SS |
| P98150 | NFKB2 | Nuclear factor NF-kappa-B p100 subunit | Gallus gallus (Chicken) | SS |
| Q94527 | Rel | Nuclear factor NF-kappa-B p110 subunit | Drosophila melanogaster (Fruit fly) | EV |
| P19838 | NFKB1 | Nuclear factor NF-kappa-B p105 subunit | Homo sapiens (Human) | SS |
| Q99549 | MPHOSPH8 | M-phase phosphoprotein 8 | Homo sapiens (Human) | PR |
| Q00653 | NFKB2 | Nuclear factor NF-kappa-B p100 subunit | Homo sapiens (Human) | SS |
| Q8N9B4 | ANKRD42 | Ankyrin repeat domain-containing protein 42 | Homo sapiens (Human) | PR |
| Q9CZK6 | Anks3 | Ankyrin repeat and SAM domain-containing protein 3 | Mus musculus (Mouse) | PR |
| P25799 | Nfkb1 | Nuclear factor NF-kappa-B p105 subunit [Cleaved into: Nuclear factor NF-kappa-B p50 subunit] | Mus musculus (Mouse) | EV |
| Q9WTK5 | Nfkb2 | Nuclear factor NF-kappa-B p100 subunit [Cleaved into: Nuclear factor NF-kappa-B p52 subunit] | Mus musculus (Mouse) | EV |
| Q8VHA6 | Asb18 | Ankyrin repeat and SOCS box protein 18 | Mus musculus (Mouse) | PR |
| Q9TZM3 | lrk-1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Caenorhabditis elegans | SS |
| O22265 | CAO | Signal recognition particle 43 kDa protein, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SZI3 | NPR2 | Regulatory protein NPR2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSNSDYLPDY | PLNSDLVKRL | KSALDAKDEE | RVRDLICTEI | TPVDAVIELA | NDDWMKDPSA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QLPTGMLLGD | LDHLKPLMDQ | FFQDANVVFE | INKDEMEWQV | KSPATFGLSG | LWTLEYKREL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TTPLCIAAAH | GHTACVRHLL | GRGADPDASP | GGRGALHEAC | LGGHTACVRL | LLQHRADPDL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LSAEGLAPLH | LCRTAASLGC | AQALLEHGAS | VQRVGGTGRD | TPLHVAAQRG | LDEHARLYLG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RGAHVDARNG | RGETALSAAC | GAARRPDEHG | RCLRLCALLL | RRGAEADARD | EDERSPLHKA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CGHASHSLAR | LLLRHGADAG | ALDYGGASPL | GRVLQTASCA | LQASPQRTVQ | ALLNHGSPTV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WPDAFPKVLK | TCASVPAVIE | VLFNSYPQLC | LSESWKEVIP | EEVFQMHKPF | YQSLFALALT |
| 430 | 440 | 450 | 460 | ||
| PRCLQHLCRC | ALRRLFGKRC | FDLIPLLPLP | KPLQNYLLLE | PQGVLH |