P30305
Gene name |
CDC25B (CDC25HU2) |
Protein name |
M-phase inducer phosphatase 2 |
Names |
Dual specificity phosphatase Cdc25B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:994 |
EC number |
3.1.3.48: Phosphoric monoester hydrolases |
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
18 structures for P30305
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1CWR | X-ray | 210 A | A | 370-580 | PDB |
| 1CWS | X-ray | 200 A | A | 370-580 | PDB |
| 1CWT | X-ray | 230 A | A | 388-565 | PDB |
| 1QB0 | X-ray | 191 A | A | 370-580 | PDB |
| 1YM9 | X-ray | 200 A | A | 391-564 | PDB |
| 1YMD | X-ray | 170 A | A | 391-564 | PDB |
| 1YMK | X-ray | 170 A | A | 391-564 | PDB |
| 1YML | X-ray | 170 A | A | 391-564 | PDB |
| 1YS0 | X-ray | 200 A | A | 391-564 | PDB |
| 2A2K | X-ray | 152 A | A | 391-564 | PDB |
| 2IFD | X-ray | 200 A | A | 391-564 | PDB |
| 2IFV | X-ray | 160 A | A | 391-564 | PDB |
| 2UZQ | X-ray | 238 A | A/B/C/D/E/F | 391-580 | PDB |
| 3FQT | X-ray | 180 A | C | 38-46 | PDB |
| 3FQU | X-ray | 180 A | C | 38-46 | PDB |
| 4WH7 | X-ray | 162 A | A | 386-565 | PDB |
| 4WH9 | X-ray | 150 A | A | 386-565 | PDB |
| AF-P30305-F1 | Predicted | AlphaFoldDB |
481 variants for P30305
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA408132487 rs1268332789 |
2 | E>* | No |
ClinGen gnomAD |
|
|
rs749466511 CA408132503 |
4 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749051 rs749466511 |
4 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs926222369 CA311014815 |
4 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs967974676 CA311014817 |
7 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1023527277 CA311014816 |
7 | E>G | No |
ClinGen Ensembl |
|
|
rs1284905190 CA408132518 |
7 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408132519 rs1284905190 |
7 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1201970854 CA408132526 |
8 | P>S | No |
ClinGen gnomAD |
|
|
rs769072014 CA408132530 |
9 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749052 rs769072014 |
9 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1000681217 CA311014818 |
12 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408132555 rs1240874444 |
13 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA408132559 rs1475352534 |
14 | L>V | No |
ClinGen gnomAD |
|
|
CA408132576 rs1479275731 |
16 | P>R | No |
ClinGen gnomAD |
|
|
CA408132572 rs1431879718 |
16 | P>T | No |
ClinGen gnomAD |
|
|
CA311014819 rs892194301 |
17 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1401952090 CA408132586 |
18 | G>D | No |
ClinGen gnomAD |
|
|
rs1483777272 CA408132590 |
19 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1344555862 CA408132606 |
21 | G>A | No |
ClinGen gnomAD |
|
|
CA9749056 rs566288145 |
23 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9749057 rs760242607 |
24 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408132628 rs1288089998 |
25 | R>G | No |
ClinGen TOPMed |
|
|
CA9749059 rs765859923 |
26 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245846993 CA408132646 |
28 | H>Y | No |
ClinGen TOPMed |
|
|
rs753500619 CA9749060 |
30 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs765110297 CA9749062 |
33 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 37 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1208519927 CA408132698 |
37 | H>Y | No |
ClinGen Ensembl |
|
|
rs1470930772 CA408132725 |
41 | G>A | No |
ClinGen gnomAD |
|
|
CA408132722 rs1364049086 |
41 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9749065 rs777925717 |
43 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs985447020 CA311014820 |
45 | R>W | No |
ClinGen Ensembl |
|
|
rs1361496689 CA408132751 |
46 | A>V | No |
ClinGen TOPMed |
|
|
rs1165375545 CA408132762 |
48 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756278897 CA9749067 |
50 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1418387610 CA408132794 |
53 | T>I | No |
ClinGen TOPMed |
|
|
CA408132802 rs911457532 |
55 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs911457532 CA311014821 |
55 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780219390 CA9749068 |
56 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408132809 rs1473609407 |
56 | T>S | No |
ClinGen TOPMed |
|
|
CA408132820 rs1038934474 |
58 | T>A | No |
ClinGen gnomAD |
|
|
rs768716565 CA9749070 |
58 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA311014822 rs1038934474 |
58 | T>S | No |
ClinGen gnomAD |
|
|
rs1357841475 CA408132828 CA408132829 |
59 | M>I | No |
ClinGen gnomAD |
|
|
CA9749072 rs748498041 |
59 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA9749071 rs372183442 |
59 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9749073 rs772477590 |
62 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs145700972 CA9749074 |
63 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408132860 rs1231865477 |
64 | G>V | No |
ClinGen gnomAD |
|
|
rs570035703 CA311014823 |
66 | G>D | No |
ClinGen 1000Genomes gnomAD |
|
|
rs769335539 CA9749097 |
67 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408132989 rs1460475673 |
68 | E>D | No |
ClinGen gnomAD |
|
|
CA9749099 rs762603447 |
68 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749100 rs373910055 |
69 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs987818882 CA311014992 |
71 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs778400837 CA408133030 |
71 | K>N | No |
ClinGen TOPMed |
|
|
CA9749102 rs761683237 |
73 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA408133072 rs1429692455 |
74 | V>A | No |
ClinGen gnomAD |
|
|
rs565873590 CA311014994 |
74 | V>I | No |
ClinGen 1000Genomes |
|
|
CA9749104 rs202156665 |
79 | F>C | No |
ClinGen 1000Genomes TOPMed |
|
|
rs750367173 CA9749106 |
80 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408133147 rs76772959 |
80 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs76772959 CA311014995 |
80 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9749108 rs778990892 |
82 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146567070 CA311014997 |
82 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs146567070 CA408133177 |
82 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1298017938 CA408133199 |
84 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA311014999 COSM3783485 rs866490685 |
84 | R>H | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA408133211 rs1600389582 |
85 | L>P | No |
ClinGen Ensembl |
|
|
rs554867030 CA9749109 |
86 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554867030 CA9749110 |
86 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9749113 rs370072424 |
87 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9749111 rs375803588 |
87 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769194857 CA9749116 |
91 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs895721277 CA311015006 |
92 | R>P | No |
ClinGen TOPMed |
|
|
CA408133295 rs762720996 |
93 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749118 rs762720996 |
93 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749117 rs775028130 |
93 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9749119 rs543058694 |
95 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761763027 CA9749121 COSM1026752 |
96 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA408133341 rs1425997425 |
97 | S>F | No |
ClinGen gnomAD |
|
|
CA408133327 rs1187793934 |
97 | S>T | No |
ClinGen gnomAD |
|
|
rs1425997425 CA408133338 |
97 | S>Y | No |
ClinGen gnomAD |
|
|
CA408133351 rs1158563910 |
98 | S>F | No |
ClinGen gnomAD |
|
|
CA408133374 rs1318988173 |
100 | S>L | No |
ClinGen TOPMed |
|
|
rs760592747 CA9749124 |
103 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9749128 rs778037198 |
105 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1238719685 CA408133441 |
105 | E>D | No |
ClinGen gnomAD |
|
|
rs199501910 CA9749127 |
105 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9749129 rs751768391 |
106 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323636824 CA408133475 |
109 | A>T | No |
ClinGen TOPMed |
|
|
CA408133485 rs1220000106 COSM1495089 |
109 | A>V | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA408133490 rs1488303200 |
110 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs973112376 CA311015118 |
115 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1319699734 CA408133627 |
117 | S>N | No |
ClinGen TOPMed |
|
|
CA408133629 rs780682683 |
117 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311015124 rs950692418 |
119 | M>V | No |
ClinGen Ensembl |
|
|
rs749796277 CA9749152 |
120 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9749153 rs754545392 |
121 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs754545392 CA9749154 |
121 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs564744524 CA9749155 |
123 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376436608 CA9749156 |
124 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1407654117 CA408133681 |
125 | E>G | No |
ClinGen gnomAD |
|
|
CA9749159 rs141382375 |
126 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370155414 CA9749161 |
127 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9749186 rs577575183 |
130 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9749187 rs759959605 |
130 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs545103594 CA9749188 |
131 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9749190 rs757939295 |
132 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347673573 CA408134068 |
133 | Q>R | No |
ClinGen gnomAD |
|
|
CA311015588 rs976549421 |
134 | A>T | No |
ClinGen gnomAD |
|
|
CA9749192 rs143386679 |
137 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137919521 CA9749191 |
137 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367767267 CA408134120 |
138 | I>L | No |
ClinGen TOPMed |
|
|
rs1284511439 CA408134135 |
139 | I>V | No |
ClinGen gnomAD |
|
|
CA9749194 rs780797924 |
140 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749196 rs143369164 |
140 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9749195 rs143369164 |
140 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9749212 rs767220701 |
142 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750060566 CA9749213 |
144 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs111654983 CA311015635 |
145 | A>D | No |
ClinGen TOPMed |
|
|
CA311015633 rs968527639 |
145 | A>T | No |
ClinGen TOPMed |
|
|
CA311015637 rs111654983 |
145 | A>V | No |
ClinGen TOPMed |
|
|
rs755912697 CA408134274 |
146 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1445234666 CA408134263 |
146 | I>V | No |
ClinGen gnomAD |
|
|
rs147172963 CA9749215 |
148 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9749216 rs371528141 |
148 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9749217 rs371528141 |
148 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61755298 CA9749218 |
150 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9749220 rs771131604 |
151 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA408134348 rs1219211410 |
152 | M>T | No |
ClinGen gnomAD |
|
|
rs140433155 COSM3740131 CA9749222 |
152 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs775666911 CA9749224 |
153 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770312291 CA9749223 |
153 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749248 rs762236479 |
155 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408134710 rs1234813756 |
158 | G>V | No |
ClinGen gnomAD |
|
|
rs1253718392 CA408134716 |
159 | H>N | No |
ClinGen gnomAD |
|
|
CA9749249 rs771606389 |
161 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA408134753 rs375465916 |
162 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1026754 rs375465916 CA9749252 |
162 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA311015716 rs201911534 |
163 | L>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs538158719 CA9749254 |
164 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs371350767 CA9749253 |
164 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9749255 rs765024374 |
165 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs752711886 CA9749256 |
168 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs752711886 CA408134826 |
168 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs758361574 CA9749257 |
169 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408134862 rs373068861 |
171 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408134861 rs1362931742 |
171 | A>S | No |
ClinGen gnomAD |
|
|
CA9749258 rs373068861 |
171 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1195699094 CA408134866 |
172 | P>S | No |
ClinGen TOPMed |
|
|
CA9749261 rs780196030 |
173 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749263 rs367573455 |
174 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779300536 CA9749265 |
175 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749266 rs144359318 |
175 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779300536 CA9749264 |
175 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215687252 CA408134885 |
176 | R>K | No |
ClinGen gnomAD |
|
|
rs773681532 CA9749267 |
176 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs199988612 CA9749268 |
177 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408134894 rs1271716601 |
177 | K>R | No |
ClinGen TOPMed |
|
|
rs1600398234 CA408134900 |
178 | S>G | No |
ClinGen Ensembl |
|
|
CA408134901 rs1224909117 |
178 | S>N | No |
ClinGen TOPMed |
|
|
CA9749269 rs770463028 |
179 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA311015742 rs920383476 |
180 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA311015740 rs773393529 |
180 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs920383476 CA408134931 |
180 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9749271 rs759162155 |
181 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382726900 CA408134934 |
181 | G>S | No |
ClinGen gnomAD |
|
|
CA408134959 rs1158462370 |
182 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs577638878 CA9749272 |
183 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408134977 rs1459178713 |
184 | A>V | No |
ClinGen gnomAD |
|
|
CA311015748 rs1052778969 |
185 | A>T | No |
ClinGen gnomAD |
|
|
rs1568508083 CA408134992 |
185 | A>V | No |
ClinGen Ensembl |
|
|
CA9749275 rs538614130 |
186 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751526183 CA9749276 |
186 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA311015754 rs536795359 |
187 | S>R | No |
ClinGen Ensembl |
|
|
CA9749278 rs780110600 |
188 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755182399 CA9749280 |
190 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9749279 rs754035549 |
190 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408135051 rs1600398432 |
190 | E>V | No |
ClinGen Ensembl |
|
|
rs1471994483 CA408135063 |
191 | D>V | No |
ClinGen gnomAD |
|
|
CA408135098 rs1266143183 |
193 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs939335268 CA311015760 |
194 | N>K | No |
ClinGen TOPMed |
|
|
rs1445694084 CA408135163 |
195 | D>N | No |
ClinGen gnomAD |
|
|
CA9749303 rs202155757 |
196 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202155757 CA9749304 |
196 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 197 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408135201 rs1362384161 |
198 | V>I | No |
ClinGen gnomAD |
|
|
CA408135292 rs1316254185 |
206 | T>A | No |
ClinGen gnomAD |
|
|
CA9749306 rs765071084 |
207 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs919329789 CA311015792 |
210 | S>F | No |
ClinGen Ensembl |
|
|
rs368042199 CA311015796 |
211 | T>A | No |
ClinGen ESP |
|
|
rs781519537 CA9749308 |
212 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1237351161 CA408135337 |
213 | A>G | No |
ClinGen gnomAD |
|
|
CA9749309 rs540104946 |
213 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540104946 CA9749310 |
213 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775293101 CA9749311 |
216 | E>G | No |
ClinGen ExAC |
|
|
rs748880746 CA9749312 |
217 | W>G | No |
ClinGen ExAC |
|
|
rs142459784 CA9749313 |
218 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9749314 rs142459784 |
218 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761494790 CA9749315 COSM216489 |
220 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs767534464 CA9749317 |
220 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9749316 rs767534464 |
220 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 222 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9749319 rs765244196 |
223 | A>V | No |
ClinGen ExAC |
|
|
CA9749320 rs752923615 |
224 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311015809 rs200968688 |
224 | F>L | No |
ClinGen 1000Genomes |
|
|
CA9749321 rs758579174 |
226 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs764466123 CA311015813 |
228 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749323 rs751994016 |
228 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs764466123 CA9749322 |
228 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361020932 CA408135433 |
229 | S>T | No |
ClinGen gnomAD |
|
|
rs573830932 CA9749324 |
230 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746300504 CA408135454 |
233 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746300504 CA9749326 |
233 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 233 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 233 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275572437 CA408135468 |
235 | M>L | No |
ClinGen gnomAD |
|
|
rs1275572437 CA408135467 |
235 | M>V | No |
ClinGen gnomAD |
|
|
CA408135489 rs1387816774 |
236 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 237 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs111545759 CA311015864 |
238 | S>G | No |
ClinGen TOPMed |
|
|
CA9749352 rs771906162 |
238 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238243216 CA408135507 |
239 | P>T | No |
ClinGen gnomAD |
|
|
CA9749353 rs751070261 |
240 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201435494 CA9749355 |
241 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9749354 rs202222511 |
241 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408135535 rs1164728004 |
243 | M>T | No |
ClinGen gnomAD |
|
|
rs1416292708 CA408135548 |
245 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1403783969 CA408135562 |
247 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408135576 rs1325386712 |
249 | S>R | No |
ClinGen gnomAD |
|
|
CA408135586 rs1401107710 |
250 | P>S | No |
ClinGen gnomAD |
|
|
rs763078027 CA9749357 |
251 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs768561202 CA9749359 |
254 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749360 rs774633750 |
255 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749361 rs151315259 |
255 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408135613 rs151315259 |
255 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372916640 CA9749362 |
259 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA311015878 rs202059655 |
260 | P>S | No |
ClinGen gnomAD |
|
|
CA408135638 rs202059655 |
260 | P>T | No |
ClinGen gnomAD |
|
|
CA9749364 rs139531565 |
261 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1568509072 CA408135643 |
261 | A>T | No |
ClinGen Ensembl |
|
|
CA9749365 rs139531565 |
261 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365603747 CA408135651 |
262 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9749367 rs754553191 |
266 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1027798125 CA311015882 |
267 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs934948129 CA311015884 CA408135702 |
269 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 269 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778219991 CA9749368 |
269 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9749370 rs757940894 |
273 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9749371 rs554137303 |
274 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9749373 rs373171092 |
279 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1568509442 CA408135804 |
282 | D>G | No |
ClinGen Ensembl |
|
|
rs757896188 CA9749388 |
284 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749389 rs144187197 |
286 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779320071 CA311015957 |
286 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs751152699 CA9749390 |
287 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA408135871 rs1342030822 |
288 | G>R | No |
ClinGen gnomAD |
|
|
CA408135879 rs1397743426 |
288 | G>V | No |
ClinGen gnomAD |
|
|
CA9749391 rs757050439 |
291 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1234700870 CA408135956 |
294 | S>G | No |
ClinGen gnomAD |
|
|
CA408135996 rs1273041674 |
297 | L>R | No |
ClinGen gnomAD |
|
|
CA408136029 rs1489433928 |
300 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA408136031 rs1489433928 |
300 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9749396 rs201902192 |
304 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1393083295 CA408136189 |
308 | D>G | No |
ClinGen gnomAD |
|
|
CA311015985 rs753753363 |
309 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs753753363 CA9749413 |
309 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs547724975 CA9749415 COSM178795 |
310 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA408136252 rs1313119421 |
313 | S>G | No |
ClinGen gnomAD |
|
|
rs1322621683 CA408136264 |
313 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1247242758 CA408136270 |
314 | K>E | No |
ClinGen gnomAD |
|
|
CA408136275 rs1271441616 |
314 | K>N | No |
ClinGen gnomAD |
|
|
CA9749416 rs200104998 |
315 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408136293 rs1240598537 |
317 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA311015986 rs536184837 |
317 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs771328061 CA9749417 |
318 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749418 rs781536119 |
318 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA408136297 rs771328061 |
318 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749420 rs141314132 |
320 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9749421 rs775863316 |
320 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA408136326 rs1416655450 |
321 | S>F | No |
ClinGen gnomAD |
|
|
CA311015989 rs375465349 |
322 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408136335 rs375465349 |
322 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408136361 rs1303269559 |
324 | M>T | No |
ClinGen gnomAD |
|
|
rs371407165 CA9749425 |
324 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149795416 CA9749427 |
328 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219380120 CA408136433 |
329 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408136435 rs376224294 |
330 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766135561 CA408136437 |
330 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766135561 CA9749429 |
330 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749428 rs376224294 |
330 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408136449 rs1204429629 |
331 | P>S | No |
ClinGen gnomAD |
|
|
CA408136469 rs1257045310 |
332 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1484447777 CA408136475 |
333 | L>F | No |
ClinGen gnomAD |
|
|
rs754915160 CA9749431 |
334 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408136535 rs1416753572 |
338 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9749432 rs778972862 |
338 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360786034 CA408136557 |
340 | Q>* | No |
ClinGen gnomAD |
|
|
CA311015995 rs912667905 |
342 | R>G | No |
ClinGen TOPMed |
|
|
CA408136591 rs1464377536 |
342 | R>S | No |
ClinGen gnomAD |
|
|
CA408136602 rs1317167566 |
343 | D>E | No |
ClinGen TOPMed |
|
|
rs757410261 CA9749434 |
343 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408136609 rs781283576 |
344 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369403610 CA311015996 |
344 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs781283576 CA9749435 |
344 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570142869 CA311015997 |
345 | P>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA311015998 rs756602132 |
345 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9749440 rs769187828 |
346 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408136648 rs1314431387 |
347 | Q>R | No |
ClinGen gnomAD |
|
|
rs774833241 CA9749441 |
348 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9749442 rs761367283 |
350 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs376488245 CA9749443 |
351 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9749445 rs2228465 |
351 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM443811 CA408136709 rs1191220801 |
352 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9749446 rs577722969 |
352 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408136717 rs1452468464 |
353 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA408136730 rs886075503 |
354 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs886075503 CA311016000 |
354 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA408136755 rs765333514 |
356 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749449 rs765333514 |
356 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263651599 CA408136766 |
357 | P>S | No |
ClinGen TOPMed |
|
|
rs1430158059 CA408136825 |
361 | Q>L | No |
ClinGen gnomAD |
|
|
rs1294170557 CA408136832 |
362 | E>K | No |
ClinGen gnomAD |
|
|
CA311016001 rs1004520342 |
363 | A>T | No |
ClinGen TOPMed |
|
|
CA9749450 rs752670696 |
365 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332045888 CA408136954 |
368 | A>T | No |
ClinGen gnomAD |
|
|
CA408136962 rs1212464885 |
368 | A>V | No |
ClinGen gnomAD |
|
|
CA9749463 rs772733349 |
369 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746480347 CA9749464 |
369 | R>H | Variant assessed as Somatic; 0.0002086 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9749466 rs771067354 |
370 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408136991 rs1156444624 |
371 | L>F | No |
ClinGen TOPMed |
|
|
rs1420231272 CA408137001 |
372 | R>C | No |
ClinGen gnomAD |
|
|
rs374005977 CA9749469 |
372 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374005977 CA408137004 |
372 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762934301 CA9749470 |
375 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929612033 CA311016046 |
376 | L>P | No |
ClinGen Ensembl |
|
|
rs763915479 CA9749471 |
376 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs756139248 CA9749473 |
377 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs560679507 CA408137076 |
378 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531304165 CA9749475 |
379 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9749476 rs755342511 |
379 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs964193804 CA311016052 |
380 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs748679556 CA9749478 |
382 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs1483841139 CA634192012 |
382 | E>VF* | No |
ClinGen gnomAD |
|
|
CA408137145 rs1600403120 |
383 | N>I | No |
ClinGen Ensembl |
|
|
rs376924240 CA9749479 |
384 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376924240 CA408137154 |
384 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408137192 rs1353170287 |
386 | D>E | No |
ClinGen TOPMed |
|
|
CA408137178 rs1189313393 |
386 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA408137181 rs1189313393 |
386 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1259923964 CA408137196 |
387 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA408137201 rs1474336302 |
387 | S>N | No |
ClinGen gnomAD |
|
|
rs138180783 CA9749481 |
390 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9749482 rs770335566 |
390 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1396339380 CA408137338 |
398 | K>E | No |
ClinGen gnomAD |
|
|
CA408137654 rs1358801506 |
403 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 405 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 406 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768275270 COSM1644485 CA9749509 |
407 | G>R | salivary_gland [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1202056050 CA408137687 |
408 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA408137740 rs980490967 |
415 | I>L | No |
ClinGen Ensembl |
|
|
CA311016197 rs980490967 |
415 | I>V | No |
ClinGen Ensembl |
|
|
rs771068008 CA9749513 |
419 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA311016200 rs779594383 |
419 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs376914644 CA9749545 |
425 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 426 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408137859 rs1185231292 |
431 | I>V | No |
ClinGen gnomAD |
|
|
rs199832947 CA311016231 |
432 | V>M | No |
ClinGen Ensembl |
|
|
CA9749551 rs570843479 |
434 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9749552 rs769895609 |
437 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303192290 CA408137908 |
438 | V>A | No |
ClinGen gnomAD |
|
|
CA9749553 rs775478838 |
438 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1386534890 CA408137949 |
444 | Y>D | No |
ClinGen TOPMed |
|
|
rs1298412898 CA408138005 |
451 | I>M | No |
ClinGen gnomAD |
|
|
rs1306235409 CA408138010 |
452 | K>R | No |
ClinGen gnomAD |
|
|
CA9749582 rs764741960 |
454 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752380335 CA9749583 |
455 | V>G | No |
ClinGen ExAC |
|
|
CA408138037 rs1209329373 |
455 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs377681163 CA9749584 |
461 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9749585 rs138651339 |
461 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9749587 rs61742036 |
462 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA311016279 rs61742036 |
462 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1439228793 CA408138140 |
463 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755042639 TCGA novel CA9749590 |
464 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs779001037 CA9749591 |
465 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408138273 rs1275017229 |
470 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA408138270 rs1275017229 |
470 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs778137288 CA9749595 |
470 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408138283 rs1297710989 |
471 | P>A | No |
ClinGen Ensembl |
|
|
rs370128666 CA9749596 |
472 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760051246 CA9749598 |
473 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9749599 rs61755297 |
473 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9749602 rs763791017 |
474 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1354804778 CA408138383 |
478 | D>H | No |
ClinGen TOPMed |
|
|
rs761775118 CA311016295 |
479 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA311016299 rs561482953 |
481 | V>D | No |
ClinGen Ensembl |
|
|
CA9749604 rs761517361 |
482 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750349157 CA9749606 |
484 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756124163 CA9749607 |
486 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1277440232 CA408138535 |
486 | H>Y | No |
ClinGen gnomAD |
|
|
rs1343953313 CA408138550 |
487 | C>R | No |
ClinGen gnomAD |
|
|
COSM1026758 CA408138609 rs1399244459 |
489 | F>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA408138639 rs1350254777 |
491 | S>P | No |
ClinGen TOPMed |
|
|
CA9749608 rs780111315 |
492 | E>Q | No |
ClinGen ExAC |
|
|
CA408138698 rs1332665483 |
493 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1332665483 CA408138699 |
493 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs199659921 CA9749610 |
496 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs200957584 CA311016308 |
496 | R>P | No |
ClinGen Ensembl |
|
|
CA408139041 rs1373210915 |
497 | M>I | No |
ClinGen gnomAD |
|
|
CA408139051 rs1394997385 |
498 | C>Y | No |
ClinGen gnomAD |
|
|
CA408139073 rs1318395398 |
499 | R>C | No |
ClinGen gnomAD |
|
|
CA9749636 COSM3379053 rs547890760 |
499 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA408139189 rs1296707909 |
503 | E>K | No |
ClinGen gnomAD |
|
|
rs1016651486 CA311016597 |
504 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1016651486 CA408139220 |
504 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1600409240 CA408139242 |
505 | D>A | No |
ClinGen Ensembl |
|
|
CA311016599 rs966968317 |
506 | R>C | No |
ClinGen Ensembl |
|
|
rs1332035758 CA408139298 |
507 | A>D | No |
ClinGen TOPMed |
|
|
CA408139293 rs1236174031 |
507 | A>T | No |
ClinGen gnomAD |
|
|
CA9749637 rs780540065 |
509 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9749641 rs773898396 |
510 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA9749640 rs768175818 |
510 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA9749642 rs747578238 |
511 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1161841965 CA408139416 |
512 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1429736603 CA408139445 |
513 | S>C | No |
ClinGen TOPMed |
|
|
CA408139453 rs1331672189 |
513 | S>T | No |
ClinGen TOPMed |
|
|
rs1568513640 CA408139686 |
523 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 524 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408139728 rs1247893759 |
525 | G>S | No |
ClinGen gnomAD |
|
|
rs1455012842 CA408139792 |
527 | K>E | No |
ClinGen gnomAD |
|
|
CA311016602 rs993987233 |
527 | K>R | No |
ClinGen TOPMed |
|
|
CA408139856 rs1175897100 |
528 | E>D | No |
ClinGen gnomAD |
|
|
rs1164242664 CA408139947 |
531 | P>L | No |
ClinGen TOPMed |
|
|
rs1466367199 CA408139958 |
532 | Q>* | No |
ClinGen TOPMed |
|
|
rs1421878327 CA408140021 |
533 | H>R | No |
ClinGen TOPMed |
|
|
rs760533388 CA9749645 |
534 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408140040 rs760533388 |
534 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930279721 CA311016609 |
535 | N>Y | No |
ClinGen Ensembl |
|
|
CA9749663 rs746605447 |
536 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA408140947 rs1309870780 |
537 | C>* | No |
ClinGen TOPMed |
|
|
rs1225328024 CA408140950 |
538 | E>K | No |
ClinGen TOPMed |
|
|
CA311016610 rs1040579784 |
540 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9749666 rs759376867 |
541 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 543 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408141049 rs1287808358 |
543 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408141048 rs1226716178 |
543 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs923513236 CA311016612 |
544 | P>S | No |
ClinGen TOPMed |
|
|
rs11570019 CA9749669 VAR_020933 |
548 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1568514013 CA408141151 |
549 | A>D | No |
ClinGen Ensembl |
|
|
CA408141202 rs1252288685 |
551 | K>E | No |
ClinGen gnomAD |
|
|
CA634192638 rs1180911168 |
552 | D>ASSLCR* | No |
ClinGen gnomAD |
|
|
rs1176087397 CA408141229 |
552 | D>H | No |
ClinGen TOPMed |
|
|
CA9749673 rs766556021 |
558 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299657974 CA408141392 |
558 | R>H | No |
ClinGen gnomAD |
|
|
rs1307593913 CA408141448 |
561 | T>A | No |
ClinGen gnomAD |
|
|
rs779489769 CA9749676 |
562 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779489769 CA408141465 |
562 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753080001 CA408141468 |
562 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753080001 CA9749677 |
562 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321621733 CA408141520 |
565 | A>S | No |
ClinGen gnomAD |
|
|
CA9749679 rs371947700 |
567 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9749681 rs770749593 |
568 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746499541 CA9749680 |
568 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9749682 rs514523 |
569 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs514521 CA408141598 CA311016615 |
569 | S>R | No |
ClinGen gnomAD |
|
|
rs514523 CA311016614 |
569 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758797782 CA408141604 |
570 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749685 rs769405661 |
570 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA9749684 rs769405661 |
570 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758797782 CA9749683 |
570 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9749687 rs768615877 |
571 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9749686 rs762747082 |
571 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600410573 CA408141618 |
572 | E>G | No |
ClinGen Ensembl |
|
|
CA311016616 rs550652694 |
575 | S>C | No |
ClinGen 1000Genomes |
|
|
CA408141696 rs760737511 |
576 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9749689 rs760737511 |
576 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs369357260 CA9749688 |
576 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408141720 rs1568514303 |
578 | Q>* | No |
ClinGen Ensembl |
|
|
rs200551395 CA9749691 |
580 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with P30305
1 regional properties for P30305
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Rhodanese-like domain | 421 - 538 | IPR001763 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.48 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| spindle pole | Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphoprotein phosphatase activity | Catalysis of the reaction: a phosphoprotein + H2O = a protein + phosphate. Together with protein kinases, these enzymes control the state of phosphorylation of cellular proteins and thereby provide an important mechanism for regulating cellular activity. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein tyrosine phosphatase activity | Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| female meiosis I | The cell cycle process in which the first meiotic division occurs in the female germline. |
| G2/M transition of mitotic cell cycle | The mitotic cell cycle transition by which a cell in G2 commits to M phase. The process begins when the kinase activity of M cyclin/CDK complex reaches a threshold high enough for the cell cycle to proceed. This is accomplished by activating a positive feedback loop that results in the accumulation of unphosphorylated and active M cyclin/CDK complex. |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
| oocyte maturation | A developmental process, independent of morphogenetic (shape) change, that is required for an oocyte to attain its fully functional state. Oocyte maturation commences after reinitiation of meiosis commonly starting with germinal vesicle breakdown, and continues up to the second meiotic arrest prior to fertilization. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of cytokinesis | Any process that activates or increases the frequency, rate or extent of the division of the cytoplasm of a cell, and its separation into two daughter cells. |
| positive regulation of G2/M transition of mitotic cell cycle | Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G2 phase to M phase of the mitotic cell cycle. |
| positive regulation of G2/MI transition of meiotic cell cycle | Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G2 phase to MI phase of the meiotic cell cycle. |
| positive regulation of mitotic cell cycle | Any process that activates or increases the rate or extent of progression through the mitotic cell cycle. |
| positive regulation of protein kinase activity | Any process that activates or increases the frequency, rate or extent of protein kinase activity. |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P20483 | stg | M-phase inducer phosphatase | Drosophila melanogaster (Fruit fly) | PR |
| P30304 | CDC25A | M-phase inducer phosphatase 1 | Homo sapiens (Human) | PR |
| P30306 | Cdc25b | M-phase inducer phosphatase 2 | Mus musculus (Mouse) | PR |
| Q336V5 | ACR2.1 | Arsenate reductase 2.1 | Oryza sativa subsp japonica (Rice) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEVPQPEPAP | GSALSPAGVC | GGAQRPGHLP | GLLLGSHGLL | GSPVRAAASS | PVTTLTQTMH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DLAGLGSETP | KSQVGTLLFR | SRSRLTHLSL | SRRASESSLS | SESSESSDAG | LCMDSPSPMD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PHMAEQTFEQ | AIQAASRIIR | NEQFAIRRFQ | SMPVRLLGHS | PVLRNITNSQ | APDGRRKSEA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GSGAASSSGE | DKENDGFVFK | MPWKPTHPSS | THALAEWASR | REAFAQRPSS | APDLMCLSPD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RKMEVEELSP | LALGRFSLTP | AEGDTEEDDG | FVDILESDLK | DDDAVPPGME | SLISAPLVKT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LEKEEEKDLV | MYSKCQRLFR | SPSMPCSVIR | PILKRLERPQ | DRDTPVQNKR | RRSVTPPEEQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QEAEEPKARV | LRSKSLCHDE | IENLLDSDHR | ELIGDYSKAF | LLQTVDGKHQ | DLKYISPETM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VALLTGKFSN | IVDKFVIVDC | RYPYEYEGGH | IKTAVNLPLE | RDAESFLLKS | PIAPCSLDKR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VILIFHCEFS | SERGPRMCRF | IRERDRAVND | YPSLYYPEMY | ILKGGYKEFF | PQHPNFCEPQ |
| 550 | 560 | 570 | |||
| DYRPMNHEAF | KDELKTFRLK | TRSWAGERSR | RELCSRLQDQ |