Q8IZ21
PR
Gene name |
PHACTR4 (PRO2963) |
Protein name |
Phosphatase and actin regulator 4 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:65979 |
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 Q8IZ21
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IZ21-F1 | Predicted | AlphaFoldDB |
559 variants for Q8IZ21
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA339724127 rs1233806188 |
3 | D>E | No |
ClinGen gnomAD |
|
|
CA720999 rs770729795 |
5 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA721000 rs540259961 |
5 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA19933155 rs375817898 |
6 | E>Q | No |
ClinGen ESP TOPMed |
|
|
CA339497274 rs1327264151 |
7 | E>G | No |
ClinGen gnomAD |
|
|
CA721041 rs746663073 |
8 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA19953120 rs914360969 |
9 | D>H | No |
ClinGen Ensembl |
|
|
rs1221228810 CA339497295 |
10 | Q>L | No |
ClinGen gnomAD |
|
|
CA339497299 rs912765475 |
11 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1247542812 CA339497302 |
11 | P>L | No |
ClinGen gnomAD |
|
|
rs912765475 CA19953126 |
11 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs912765475 CA339497298 |
11 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 12 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 12 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 12 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866660914 CA19953127 |
13 | T>I | No |
ClinGen Ensembl |
|
|
rs1407964167 CA339497321 |
14 | E>D | No |
ClinGen TOPMed |
|
|
CA721043 rs780974221 |
16 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA339497328 rs1287469327 |
16 | G>S | No |
ClinGen TOPMed |
|
|
rs747706787 CA721044 |
17 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19953141 rs979805950 |
18 | V>I | No |
ClinGen Ensembl |
|
|
CA339497363 rs1194075558 |
21 | S>T | No |
ClinGen gnomAD |
|
|
rs1249743416 CA339497390 |
25 | G>E | No |
ClinGen gnomAD |
|
|
rs749702861 CA721047 |
27 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs4129914 CA721046 |
27 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339497408 rs1570021571 |
28 | T>K | No |
ClinGen Ensembl |
|
|
CA721048 rs183265219 |
29 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339497414 TCGA novel rs183265219 |
29 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs755320061 CA19953177 |
30 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs774648598 CA721049 |
34 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA721051 rs772329990 |
36 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA721053 rs541741236 |
37 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA721054 rs564637677 |
38 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750385723 CA721055 |
39 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762730952 CA721056 |
41 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1473753012 CA339497560 |
48 | K>Q | No |
ClinGen TOPMed |
|
|
rs1277983349 CA339497593 |
49 | W>* | No |
ClinGen gnomAD |
|
|
CA339497586 rs1197301931 |
49 | W>* | No |
ClinGen gnomAD |
|
|
rs1340028195 CA339497579 |
49 | W>R | No |
ClinGen gnomAD |
|
|
rs1484805949 CA339497607 |
50 | R>K | No |
ClinGen gnomAD |
|
|
CA721062 rs550399400 |
51 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339497653 rs1425570635 |
52 | K>Q | No |
ClinGen gnomAD |
|
|
CA721064 rs563830647 |
52 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA721065 rs371326239 |
53 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA721066 rs777084678 |
54 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA721067 rs777084678 |
54 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs779370723 CA721069 |
56 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19953277 rs375765666 |
56 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 57 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339497786 rs1351168950 |
58 | F>L | No |
ClinGen TOPMed |
|
|
CA721070 rs746271746 |
58 | F>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 64 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747393903 CA721092 |
67 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs747393903 COSM1748332 CA721093 |
67 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA721091 rs759224347 |
67 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA721095 rs369520897 |
68 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA721096 rs571300371 |
69 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA721097 rs774450485 |
70 | S>A | No |
ClinGen ExAC |
|
|
rs1203247718 CA339498016 |
71 | M>I | No |
ClinGen gnomAD |
|
|
CA721098 rs759482789 |
71 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA339498020 rs1468459755 COSM907972 |
72 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA339498023 rs1194632729 |
72 | R>P | No |
ClinGen gnomAD |
|
|
COSM1738434 rs1194632729 CA339498021 |
72 | R>Q | NS [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA339498040 rs1181922312 |
75 | R>K | No |
ClinGen TOPMed |
|
|
CA339498045 rs1416935504 |
76 | E>K | No |
ClinGen gnomAD |
|
|
CA339498057 rs1251237363 |
77 | E>G | No |
ClinGen gnomAD |
|
|
CA721100 rs775487381 |
79 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs775487381 CA339498066 |
79 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA19954074 rs374407944 |
81 | R>T | No |
ClinGen Ensembl |
|
|
rs760500813 CA721102 |
82 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1393597649 CA339498092 |
83 | V>F | No |
ClinGen gnomAD |
|
|
CA721103 rs763694229 |
85 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA721105 rs756741502 |
86 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1306504134 CA339498129 |
89 | E>Q | No |
ClinGen gnomAD |
|
|
rs1230271123 CA339498136 |
90 | Q>E | No |
ClinGen gnomAD |
|
|
CA19957832 rs993509579 |
92 | G>C | No |
ClinGen Ensembl |
|
|
CA721124 rs114913572 |
92 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339499581 rs993509579 |
92 | G>R | No |
ClinGen Ensembl |
|
|
rs1289887605 CA339499595 |
93 | E>G | No |
ClinGen TOPMed |
|
|
rs757878355 CA721125 |
95 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 96 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs887924177 CA19957841 |
97 | K>R | No |
ClinGen TOPMed |
|
|
rs1170866513 CA339499704 |
99 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755320230 CA721128 |
100 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs752064929 CA721127 |
100 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1355086124 CA339499766 |
102 | M>V | No |
ClinGen gnomAD |
|
|
CA339499810 rs1448797009 |
103 | L>* | No |
ClinGen gnomAD |
|
|
CA721130 rs748459208 |
104 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778120577 CA721132 |
105 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339499941 rs564701255 |
106 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564701255 CA721134 |
106 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1442686399 CA339500080 |
110 | P>L | No |
ClinGen gnomAD |
|
|
CA339500066 rs1279117254 |
110 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 111 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239921562 CA339500121 |
111 | I>T | No |
ClinGen gnomAD |
|
|
rs1485381291 CA339500143 |
112 | G>R | No |
ClinGen TOPMed |
|
|
rs1475041174 CA339500210 |
114 | A>G | No |
ClinGen gnomAD |
|
|
rs1189062182 CA339500230 |
115 | R>K | No |
ClinGen gnomAD |
|
|
rs1188681224 CA339500240 |
115 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1189062182 CA339500232 |
115 | R>T | No |
ClinGen gnomAD |
|
|
rs746910650 CA721136 |
117 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs746910650 CA339500276 |
117 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA721137 rs201093319 |
118 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA19957931 rs375917926 |
119 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA19957957 rs76306418 |
121 | Q>K | No |
ClinGen Ensembl |
|
|
rs1373974921 CA339500408 |
123 | E>K | No |
ClinGen TOPMed |
|
|
CA721140 rs769482180 |
124 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765863419 CA721143 |
128 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1557833657 CA339500534 |
128 | R>T | No |
ClinGen Ensembl |
|
| TCGA novel | 131 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1006899771 CA19957986 |
131 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs544000634 CA339500636 |
133 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA721145 rs544000634 |
133 | R>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752019337 CA721144 |
133 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1303197865 CA339500688 |
135 | A>V | No |
ClinGen gnomAD |
|
|
CA19958003 rs1017844287 |
136 | I>T | No |
ClinGen Ensembl |
|
|
rs1345268690 CA339500812 |
141 | L>I | No |
ClinGen gnomAD |
|
|
CA19958005 rs764650764 |
143 | K>E | No |
ClinGen Ensembl |
|
|
CA339500879 rs1220665878 |
144 | R>* | No |
ClinGen gnomAD |
|
|
CA339500875 rs1220665878 |
144 | R>G | No |
ClinGen gnomAD |
|
|
COSM907974 rs767899135 CA721146 |
144 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs753156193 CA721147 |
145 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA339500987 rs1437667291 |
146 | G>A | No |
ClinGen TOPMed |
|
|
rs1242867063 CA339501002 |
147 | S>* | No |
ClinGen TOPMed |
|
|
CA339501003 rs1242867063 |
147 | S>L | No |
ClinGen TOPMed |
|
|
CA339501052 rs1332568131 |
150 | S>N | No |
ClinGen gnomAD |
|
|
rs1252182373 CA339501066 |
151 | Q>* | No |
ClinGen TOPMed |
|
|
CA339501140 rs1185082923 |
154 | S>C | No |
ClinGen TOPMed |
|
|
CA721164 rs773971454 |
156 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA721166 rs377431492 |
159 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs377431492 CA19958378 |
159 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA19958387 rs868346303 |
160 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 162 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753216368 CA721168 |
163 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA339501319 rs373715544 |
164 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373715544 CA721169 |
164 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs929296802 CA19958400 |
165 | K>Q | No |
ClinGen Ensembl |
|
|
rs202232228 CA339501360 |
166 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA721170 rs202232228 |
166 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM907975 rs757621637 CA721173 |
167 | P>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs757621637 CA339501386 |
167 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757621637 CA721172 |
167 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754120110 CA721171 |
167 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA19958419 rs942229997 |
170 | P>L | No |
ClinGen TOPMed |
|
|
CA339501423 rs1163127189 |
170 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1407392913 CA339501494 |
174 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 174 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339501537 rs1312278225 |
176 | S>F | No |
ClinGen TOPMed |
|
|
rs1039203190 CA19958421 |
178 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1039203190 CA339501575 |
178 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA721175 rs758374350 |
179 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1389171456 CA339501577 |
179 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1268977557 CA339501592 |
180 | E>* | No |
ClinGen TOPMed |
|
|
CA721176 rs781216758 |
181 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs748029319 CA721177 |
183 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA721178 rs755914931 |
184 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs375395051 CA721179 |
186 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339501806 rs1169201028 |
189 | A>T | No |
ClinGen gnomAD |
|
|
rs569659101 CA19958472 |
191 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs569659101 CA721180 |
191 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770669061 CA721181 |
192 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA339501921 rs1337987601 |
194 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745415400 CA721183 |
194 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1570043873 CA339501936 |
195 | T>A | No |
ClinGen Ensembl |
|
|
rs771435242 CA339501943 |
195 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA721184 rs771435242 |
195 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254262789 CA339501992 |
197 | R>K | No |
ClinGen gnomAD |
|
|
rs375108461 CA721186 |
200 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339502036 rs375108461 |
200 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA721187 rs764697512 |
202 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764697512 CA339502093 |
202 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570044003 CA339502089 |
202 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 203 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 205 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339502134 rs1570044030 |
205 | T>P | No |
ClinGen Ensembl |
|
|
CA19958546 rs1021417912 |
206 | T>I | No |
ClinGen TOPMed |
|
|
COSM1341583 rs750647174 CA19958556 |
207 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA721188 rs777195928 |
207 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1557834250 CA339502219 |
208 | P>A | No |
ClinGen Ensembl |
|
|
rs1370401426 CA339502241 |
208 | P>L | No |
ClinGen gnomAD |
|
|
rs765533262 CA721191 |
209 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339502321 rs1373260119 |
212 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA721192 rs750567619 |
213 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339502366 rs1557834297 |
214 | A>V | No |
ClinGen Ensembl |
|
|
rs758524151 CA721193 |
216 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432117829 CA339502456 |
218 | A>P | No |
ClinGen TOPMed |
|
|
rs752635496 CA721195 |
221 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA339502530 rs1225242064 |
221 | V>I | No |
ClinGen gnomAD |
|
|
CA721196 rs756108870 |
222 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA19958599 rs916852255 |
224 | S>P | No |
ClinGen TOPMed |
|
|
rs777666624 CA721197 |
225 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276990695 CA339502599 |
226 | T>A | No |
ClinGen gnomAD |
|
|
CA721198 rs749122214 |
226 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339502597 rs1276990695 |
226 | T>P | No |
ClinGen gnomAD |
|
|
CA339502622 rs1570044366 |
228 | S>P | No |
ClinGen Ensembl |
|
|
rs1257021590 CA339502643 |
229 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 231 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345105627 CA339502684 |
232 | R>K | No |
ClinGen TOPMed |
|
|
CA339502698 rs1570044443 |
233 | T>P | No |
ClinGen Ensembl |
|
|
rs1191575742 CA339502777 |
236 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA19958617 rs925472500 |
237 | A>T | No |
ClinGen TOPMed |
|
|
rs373249799 CA339502817 |
238 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373249799 CA721201 |
238 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA19958644 rs374954407 |
241 | T>I | No |
ClinGen ESP gnomAD |
|
|
rs1446285853 CA339502874 |
243 | T>N | No |
ClinGen TOPMed |
|
|
rs1204325103 CA339502914 |
246 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA339502904 rs1570044583 |
246 | T>P | No |
ClinGen Ensembl |
|
|
rs775209254 CA721203 |
247 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746507516 CA721204 |
248 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs769332740 CA721205 |
249 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339502954 rs1380042366 |
250 | T>A | No |
ClinGen gnomAD |
|
|
CA339502986 rs1319752383 |
252 | M>T | No |
ClinGen gnomAD |
|
|
CA721207 rs762266252 |
254 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339503009 rs762266252 |
254 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339503030 rs1301039183 |
256 | K>E | No |
ClinGen gnomAD |
|
|
CA721208 rs765467109 |
258 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339503115 rs1256812956 |
262 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs369152598 CA721210 |
263 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs34628351 | 263 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339503119 rs1203487249 |
263 | P>R | No |
ClinGen gnomAD |
|
|
CA19958660 rs369152598 |
263 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA721209 rs369152598 |
263 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1206603979 CA339503131 |
265 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs374590456 CA721211 |
266 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339503150 rs1190895083 |
268 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA721214 rs377708357 |
270 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753670222 CA721215 |
271 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA721216 rs757088676 |
272 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 275 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19962879 rs987556309 |
275 | A>V | No |
ClinGen TOPMed |
|
|
rs761727820 CA721237 |
280 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339506388 rs1321851019 |
282 | N>K | No |
ClinGen gnomAD |
|
|
rs765210285 CA721238 |
283 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339506397 rs1330698283 |
284 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 286 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758232803 CA721240 |
288 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs145957277 CA721242 |
290 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA721244 rs200234997 |
290 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200234997 CA721245 |
290 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145957277 CA721243 |
290 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs878942125 CA19962925 |
291 | S>C | No |
ClinGen Ensembl |
|
|
rs370099764 CA721248 |
293 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 293 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA721247 rs543879394 |
293 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774569751 CA721250 |
295 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA721249 rs771238441 |
295 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA339506470 rs1259968805 |
297 | K>E | No |
ClinGen gnomAD |
|
|
rs1424375377 CA339506501 |
301 | P>R | No |
ClinGen gnomAD |
|
|
rs1570065030 CA339506509 |
303 | T>P | No |
ClinGen Ensembl |
|
|
CA721251 rs759688889 |
304 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177065140 CA339506520 |
305 | V>I | No |
ClinGen TOPMed |
|
|
CA721252 rs772280910 |
306 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs775495021 CA721253 |
306 | P>L | No |
ClinGen ExAC |
|
|
CA339506530 rs1486059013 |
307 | T>P | No |
ClinGen gnomAD |
|
|
rs1055512618 CA19962963 |
309 | E>K | No |
ClinGen TOPMed |
|
|
CA721255 rs765130131 |
313 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA339506578 rs1557838776 |
314 | I>S | No |
ClinGen Ensembl |
|
|
rs1371437790 CA339506582 |
315 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA721256 rs368708965 |
315 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339506603 rs1557838807 |
318 | T>R | No |
ClinGen Ensembl |
|
|
rs1379061734 CA339506606 |
319 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA339506608 rs1395954045 |
319 | P>Q | No |
ClinGen TOPMed |
|
|
rs1379061734 CA339506607 |
319 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs372131723 CA721257 |
320 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339506662 rs1340408982 |
326 | S>N | No |
ClinGen gnomAD |
|
|
CA339506668 rs1297490214 |
327 | T>A | No |
ClinGen TOPMed |
|
|
rs766215270 CA721259 |
327 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297490214 CA339506669 |
327 | T>S | No |
ClinGen TOPMed |
|
|
rs754743514 CA721261 |
328 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754743514 CA339506675 |
328 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339506680 rs1159050824 |
329 | S>P | No |
ClinGen gnomAD |
|
|
CA339506685 rs368189063 |
330 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA721263 rs368189063 |
330 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA721265 rs201435138 |
332 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201435138 CA721266 |
332 | S>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA721267 rs749738531 |
333 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA721270 rs779321323 |
335 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1431925716 CA339506718 |
335 | L>P | No |
ClinGen gnomAD |
|
|
rs559035770 CA19963076 |
336 | P>S | No |
ClinGen Ensembl |
|
|
rs559035770 CA19963075 |
336 | P>T | No |
ClinGen Ensembl |
|
|
CA19963080 rs1008739213 |
337 | M>R | No |
ClinGen TOPMed |
|
|
CA721271 rs746222494 |
337 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139921539 CA721272 |
341 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA721273 COSM3689569 rs775752459 |
341 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1029137640 CA19963090 |
343 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA721275 rs768730507 |
343 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA339506767 rs773269148 |
344 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339506766 rs773269148 |
344 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773269148 CA721278 |
344 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA721281 rs373329656 |
346 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA721284 rs202061695 |
346 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA721285 rs202061695 |
346 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA721286 rs202061695 |
346 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA721282 rs373329656 |
346 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA721283 rs373329656 |
346 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs925706635 CA19963140 |
347 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 348 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA721287 rs201971538 |
350 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339506844 rs1306240183 |
352 | P>R | No |
ClinGen gnomAD |
|
|
CA19963169 rs937058515 |
352 | P>T | No |
ClinGen Ensembl |
|
|
CA339506855 rs1170978693 |
353 | P>L | No |
ClinGen gnomAD |
|
|
CA19963175 rs1015191385 |
355 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1213508629 CA339506878 |
355 | P>T | No |
ClinGen TOPMed |
|
|
CA721290 rs746273802 |
357 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA339506907 rs1474250680 |
357 | R>H | No |
ClinGen TOPMed |
|
|
rs1317376897 CA339506957 |
361 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1557839113 CA339506968 |
362 | P>L | No |
ClinGen Ensembl |
|
|
rs758753606 CA721291 |
366 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs201589186 CA721292 |
368 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339507055 rs1263445155 |
369 | V>L | No |
ClinGen gnomAD |
|
|
CA339507070 rs1270476996 |
370 | P>L | No |
ClinGen gnomAD |
|
|
CA339507067 rs1570066356 |
370 | P>S | No |
ClinGen Ensembl |
|
|
CA339507079 rs1176081281 |
371 | E>* | No |
ClinGen gnomAD |
|
|
CA522358029 rs1488320313 |
375 | P>* | No |
ClinGen Ensembl |
|
|
rs1273843083 CA339507143 |
375 | P>R | No |
ClinGen gnomAD |
|
|
rs1220433252 CA339507155 |
376 | P>Q | No |
ClinGen gnomAD |
|
|
rs1209204919 CA339507172 |
378 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs748224710 CA721297 |
379 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA721298 rs61785974 |
380 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774397679 CA721299 |
380 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339507205 rs886479465 |
381 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA721301 rs759434086 |
381 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA339507209 rs1298762711 |
381 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs886479465 CA19963254 |
381 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1289673898 CA339507221 |
382 | Q>* | No |
ClinGen TOPMed |
|
|
rs1364102047 CA339507243 |
383 | E>G | No |
ClinGen TOPMed |
|
|
CA19963271 rs925680759 |
385 | P>A | No |
ClinGen TOPMed |
|
|
CA721302 rs775010237 |
387 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1160496051 CA339507304 |
388 | E>* | No |
ClinGen gnomAD |
|
|
rs371142753 CA721303 |
389 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA19963301 rs372370695 |
390 | Q>K | No |
ClinGen Ensembl |
|
|
CA721304 rs763644845 |
392 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753398686 CA721306 |
393 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs753398686 CA721305 |
393 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1331313511 CA339507390 |
394 | V>F | No |
ClinGen gnomAD |
|
|
CA721307 rs372964339 |
396 | K>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1286073359 CA339507429 |
397 | R>K | No |
ClinGen gnomAD |
|
|
CA721309 rs758701055 |
398 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA721310 rs182794262 |
398 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs913148297 CA19963318 |
398 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339507470 rs1557839402 |
400 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 400 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1454692196 CA339507516 |
403 | F>S | No |
ClinGen TOPMed |
|
|
CA721311 rs751861978 |
404 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA339507557 rs1553201746 |
406 | P>L | No |
ClinGen Ensembl |
|
|
CA339507550 rs1570067096 |
406 | P>S | No |
ClinGen Ensembl |
|
|
rs1557839439 CA339507577 |
408 | I>L | No |
ClinGen Ensembl |
|
|
rs1452397882 CA339507586 |
409 | P>T | No |
ClinGen gnomAD |
|
|
CA339507637 rs1249921558 |
413 | P>R | No |
ClinGen gnomAD |
|
|
CA721314 rs150802764 |
414 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA721313 rs781542327 COSM1627005 |
414 | P>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs186393583 CA721315 |
417 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779009603 CA721316 |
417 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA721318 rs771901291 |
420 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA339507685 rs771901291 |
420 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM907977 rs370367386 CA721319 |
420 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA721320 rs760368878 |
421 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1331538387 CA339507695 |
422 | Q>* | No |
ClinGen Ensembl |
|
|
rs1557839510 CA339507699 |
422 | Q>R | No |
ClinGen Ensembl |
|
|
CA339507715 rs1309370644 |
424 | A>D | No |
ClinGen gnomAD |
|
|
CA339507712 rs1409870596 |
424 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339507710 rs1409870596 |
424 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA721323 rs761338498 |
426 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA339507745 rs1358144939 |
429 | L>P | No |
ClinGen gnomAD |
|
|
CA721325 rs200781337 |
430 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763582018 CA721326 |
431 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs766779575 CA721327 |
432 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19963384 rs1009598510 |
432 | T>S | No |
ClinGen Ensembl |
|
|
CA19963391 rs887835611 |
433 | P>T | No |
ClinGen TOPMed |
|
|
rs752002123 CA721328 |
434 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs367581911 CA721329 |
436 | E>K | No |
ClinGen ESP ExAC |
|
|
CA339507800 rs1252838403 |
439 | H>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 440 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224706869 CA339507815 |
441 | A>S | No |
ClinGen TOPMed |
|
|
CA721331 rs781595637 |
442 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1369570285 CA339507825 |
442 | H>Q | No |
ClinGen gnomAD |
|
|
CA721330 rs781595637 |
442 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1440778373 CA339507822 |
442 | H>Y | No |
ClinGen gnomAD |
|
|
CA721332 rs756268561 |
443 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs371046710 CA721334 |
445 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 445 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA721336 rs375523070 |
448 | N>K | No |
ClinGen ESP ExAC |
|
|
rs1299379178 CA339507863 |
448 | N>S | No |
ClinGen gnomAD |
|
|
rs1399350549 CA339507874 |
450 | D>N | No |
ClinGen gnomAD |
|
|
CA721338 rs768394521 |
454 | E>G | No |
ClinGen ExAC TOPMed |
|
|
rs555863661 CA721339 |
456 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432609090 CA339507930 |
457 | S>N | No |
ClinGen gnomAD |
|
|
CA721340 rs200906297 |
458 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200906297 CA339507938 |
458 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339507939 rs1229332291 |
459 | L>M | No |
ClinGen gnomAD |
|
|
COSM3419097 rs772833497 CA721342 |
461 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1570067892 CA339507951 |
461 | R>W | No |
ClinGen Ensembl |
|
|
CA339507955 rs1570067925 |
462 | T>A | No |
ClinGen Ensembl |
|
|
CA721344 rs74455757 |
463 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339507980 rs1327379245 |
466 | P>A | No |
ClinGen TOPMed |
|
|
CA339507984 rs1257438808 |
466 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339507983 rs1257438808 |
466 | P>R | No |
ClinGen gnomAD |
|
|
CA721345 rs774681028 |
467 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 468 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759967325 CA721346 |
469 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs988532126 CA19963491 |
472 | L>V | No |
ClinGen TOPMed |
|
|
CA339508035 rs1281687068 |
474 | V>A | No |
ClinGen TOPMed |
|
|
rs767927009 CA721347 |
474 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 475 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA721362 rs543331485 |
477 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1448723690 CA339508665 |
478 | E>K | No |
ClinGen TOPMed |
|
|
rs1264800797 CA339508697 |
480 | E>* | No |
ClinGen gnomAD |
|
|
rs770296990 CA721366 |
481 | E>D | No |
ClinGen ExAC |
|
|
rs1432296465 CA339508735 |
482 | E>D | No |
ClinGen gnomAD |
|
|
rs199800458 CA721367 |
484 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA721370 rs776047749 |
486 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA721369 rs368790903 |
486 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200884078 CA721372 |
488 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs542818893 CA721373 |
489 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757374804 CA721374 |
489 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs755380108 CA721375 |
490 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs755380108 CA19970228 |
490 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs376686876 CA721377 |
493 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA721376 rs750507408 |
493 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA339508867 rs1557841237 |
493 | M>V | No |
ClinGen Ensembl |
|
|
CA721378 rs781082063 |
494 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA339508901 rs747976183 |
496 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA721379 rs747976183 |
496 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA721380 rs141772598 |
500 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA721381 rs777503797 |
501 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1350786780 CA339508953 |
501 | K>T | No |
ClinGen TOPMed |
|
|
rs773791159 CA721384 |
503 | P>L | No |
ClinGen ExAC gnomAD |
|
|
COSM464395 CA721383 rs770613951 |
503 | P>S | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs752973134 CA19970265 |
504 | Q>K | No |
ClinGen Ensembl |
|
|
rs776102987 CA721387 |
505 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761145853 CA721388 |
507 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758653103 CA19970268 |
507 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA721389 rs768849564 |
510 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs768849564 CA339509062 |
510 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA721390 rs776920338 |
510 | E>V | No |
ClinGen ExAC |
|
| TCGA novel | 512 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420862984 CA339509113 |
512 | K>R | No |
ClinGen gnomAD |
|
|
rs765480114 CA721393 |
515 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339509218 rs1458231343 |
516 | S>C | No |
ClinGen gnomAD |
|
|
rs750549441 CA721394 |
517 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 519 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 519 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339509315 rs1470240016 |
520 | G>V | No |
ClinGen gnomAD |
|
|
CA339509340 rs1322070492 |
521 | P>L | No |
ClinGen TOPMed |
|
|
rs1367734612 CA339509377 |
523 | Q>R | No |
ClinGen gnomAD |
|
|
CA339509417 rs779608236 |
525 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA721395 rs779608236 |
525 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1307561966 CA339509460 |
527 | E>* | No |
ClinGen gnomAD |
|
|
CA339509482 rs1570074305 |
528 | E>D | No |
ClinGen Ensembl |
|
|
rs767472200 CA721396 |
529 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA339509490 rs1163142373 |
529 | D>Y | No |
ClinGen TOPMed |
|
|
rs1225913100 CA339509540 |
532 | E>G | No |
ClinGen gnomAD |
|
|
rs985691324 CA339509593 |
536 | S>G | No |
ClinGen TOPMed |
|
|
rs1557844214 CA339509992 |
536 | S>N | No |
ClinGen Ensembl |
|
|
rs985691324 CA19970315 |
536 | S>R | No |
ClinGen TOPMed |
|
|
rs72661785 CA721419 |
537 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339510000 rs1448662255 |
537 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 538 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA721421 rs200581707 |
539 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339510018 rs1395245211 |
540 | N>K | No |
ClinGen TOPMed |
|
|
CA721422 rs374680607 |
541 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1049784618 CA19972930 |
542 | V>A | No |
ClinGen TOPMed |
|
|
CA721427 rs746499725 |
550 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA721429 CA721428 rs377530308 |
551 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772896459 CA19972955 |
554 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1336668659 CA339510128 |
556 | P>R | No |
ClinGen TOPMed |
|
|
rs1025175033 CA19972966 |
557 | S>R | No |
ClinGen gnomAD |
|
|
rs748489960 CA721430 |
562 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs770144222 CA721431 |
567 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA339510206 rs1205423730 |
568 | C>R | No |
ClinGen gnomAD |
|
|
rs1216500008 CA339510217 |
569 | K>R | No |
ClinGen TOPMed |
|
|
CA721434 rs749444480 |
574 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771136596 CA721435 |
575 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs368874992 CA19973003 |
575 | N>Y | No |
ClinGen Ensembl |
|
|
rs1485416372 CA339510276 |
577 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 578 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339510294 rs1189541478 |
579 | H>Q | No |
ClinGen gnomAD |
|
|
rs1428599258 CA339510301 |
580 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA19973010 rs746483162 |
586 | I>S | No |
ClinGen gnomAD |
|
|
rs147207733 CA721438 |
587 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA721437 rs759630687 |
587 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756474736 CA721450 |
588 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1322426541 CA339511624 |
588 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 594 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA721453 rs771183495 |
595 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA339511805 rs771183495 |
595 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA339511923 rs1281221883 |
601 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 601 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370134959 CA721498 |
606 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA721456 rs772135049 |
606 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA339512236 rs1471610245 |
607 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 608 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs76093678 CA19980589 |
612 | R>C | No |
ClinGen TOPMed |
|
|
rs1364099004 CA339512277 |
612 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs925223231 CA19980606 |
613 | Q>H | No |
ClinGen TOPMed |
|
|
CA339512285 rs1326210547 |
614 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 616 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA721501 rs199899971 COSM907981 |
617 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA721502 rs201171254 |
617 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 618 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA721503 rs774957286 |
621 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA339512336 COSM364173 rs1303896640 |
621 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs573663875 CA721505 |
622 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA721504 rs776370271 |
622 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1317855654 CA339512351 |
624 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 625 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339512367 rs1241677790 |
626 | K>N | No |
ClinGen gnomAD |
|
|
CA339512411 rs1355624183 |
631 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 633 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 634 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA721531 rs767826198 |
635 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA339512460 rs1234986907 |
639 | R>K | No |
ClinGen TOPMed |
|
|
CA339512465 rs1453871306 |
640 | K>Q | No |
ClinGen gnomAD |
|
|
rs1442574073 CA339512487 |
643 | R>K | No |
ClinGen gnomAD |
|
|
CA339512495 rs1213460337 |
644 | F>Y | No |
ClinGen gnomAD |
|
|
CA339512505 rs1308752442 |
645 | N>K | No |
ClinGen gnomAD |
|
|
CA721532 rs544527299 |
645 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339512504 rs544527299 |
645 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 646 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1014179296 COSM907982 CA19981044 |
647 | Y>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA339512526 rs1461578950 |
648 | V>A | No |
ClinGen gnomAD |
|
|
CA339512524 rs1384154541 |
648 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA721534 rs778921662 |
649 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756098074 CA721533 |
649 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339512536 rs1416733438 |
650 | V>L | No |
ClinGen TOPMed |
|
|
CA721535 rs186192288 |
652 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 655 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339512586 rs1570119932 |
657 | D>A | No |
ClinGen Ensembl |
|
|
CA19981064 rs758350018 |
658 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA721537 rs758350018 |
658 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1395108790 CA339512595 |
659 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779879547 CA721538 |
659 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs779879547 CA19981075 |
659 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs868549146 CA19981102 |
661 | D>E | No |
ClinGen Ensembl |
|
|
CA721540 rs373106184 |
661 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA19981103 rs191942965 |
667 | L>M | No |
ClinGen 1000Genomes gnomAD |
|
|
rs747719789 CA721542 |
669 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA721543 rs747719789 |
669 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 670 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19981118 rs896053779 |
671 | D>V | No |
ClinGen TOPMed |
|
|
CA339512734 rs1343067061 |
672 | K>R | No |
ClinGen gnomAD |
|
|
CA721569 rs760862649 |
674 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs764352833 CA721570 |
674 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339512795 rs1268185311 |
675 | I>T | No |
ClinGen gnomAD |
|
|
rs1490537685 CA339512808 |
677 | K>T | No |
ClinGen gnomAD |
|
|
rs1201582553 CA339512818 |
678 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 684 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469927603 CA339512932 |
685 | S>P | No |
ClinGen gnomAD |
|
|
rs1381777401 CA339512942 |
686 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339512964 rs1570123047 |
687 | M>T | No |
ClinGen Ensembl |
|
|
rs1162556459 CA339512986 |
688 | E>G | No |
ClinGen gnomAD |
|
|
CA339513063 rs1335146669 |
693 | S>N | No |
ClinGen gnomAD |
|
|
CA339513083 rs1281135094 |
694 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 696 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19981741 rs983225492 |
697 | T>I | No |
ClinGen Ensembl |
|
|
CA339513133 rs1570123154 |
697 | T>S | No |
ClinGen Ensembl |
|
|
CA721575 COSM1220315 rs754775218 |
698 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs781034867 CA721576 |
698 | R>H | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8IZ21
3 regional properties for Q8IZ21
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | RPEL repeat | 63 - 88 | IPR004018-1 |
| repeat | RPEL repeat | 583 - 608 | IPR004018-2 |
| repeat | RPEL repeat | 621 - 646 | IPR004018-3 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| protein phosphatase 1 binding | Binding to a protein phosphatase 1. |
| protein phosphatase activator activity | Binds to and increases the activity of a protein phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a protein substrate molecule. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| closure of optic fissure | The closure of the temporary ventral gap in the optic cup that contributes to its shaping. |
| enteric nervous system development | The process whose specific outcome is the progression of the enteric nervous system over time, from its formation to the mature structure. The enteric nervous system is composed of two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gall bladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation. |
| negative regulation of integrin-mediated signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of integrin-mediated signaling pathway. |
| neural crest cell migration | The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. |
| neural tube closure | The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. |
| positive regulation of catalytic activity | Any process that activates or increases the activity of an enzyme. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| Rho protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P33304 | AFR1 | Protein AFR1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9C0D0 | PHACTR1 | Phosphatase and actin regulator 1 | Homo sapiens (Human) | PR |
| Q2M3X8 | Phactr1 | Phosphatase and actin regulator 1 | Mus musculus (Mouse) | PR |
| Q6PEI3 | phactr4b | Phosphatase and actin regulator 4B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEDPFEEADQ | PTTEPGMVLD | SVEAGDTTPP | TKRKSKFSGF | GKIFKPWKWR | KKKSSDKFKE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TSEVLERKIS | MRKPREELVK | RGVLLEDPEQ | GGEDPGKPSD | AMLKNGHTTP | IGNARSSSPV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QVEEEPVRLA | SLRKAIPEED | LKKRLGSTGS | QPNSEAESVP | ENVPKPPLLP | PKRPLSSSHE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ASEGQAKDAT | SSGGTARFII | STSITTAPAA | TTAATSLAKT | VNLSVTPSPA | PRTLPAAPAS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TNTTATPSLT | HMVPAKQPPI | PPPKPAHRNS | NPVIAELSQA | INSGTLLSKP | SPPLPPKRGI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PSTSVPTLES | AAAITTKTPS | DEREKSTCSM | GSELLPMISP | RSPSPPLPTH | IPPEPPRTPP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FPAKTFQVVP | EIEFPPSLDL | HQEIPQQEDQ | KKEVPKRILD | QNFGEPHIPS | RLPPLPLHIR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IQQALTSPLP | MTPILEGSHR | AHSLLFENSD | SFSEDSSTLG | RTRSLPITIE | MLKVPDDEEE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EEQTCPSTFS | EEMTPTSVIP | KLPQCLREEE | EKESDSDSEG | PIQYRDEEDE | DESYQSALAN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KVKRKDTLAM | KLNHRPSEPE | LNLNSWPCKS | KEEWNEIRHQ | IGNTLIRRLS | QRPTPEELEQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RNILQPKNEA | DRQAEKREIK | RRLTRKLSQR | PTVAELLARK | ILRFNEYVEV | TDAQDYDRRA |
| 670 | 680 | 690 | 700 | ||
| DKPWTKLTPA | DKAAIRKELN | EFKSSEMEVH | EESKHFTRYH | RP |