P54750
PR
Gene name |
PDE1A |
Protein name |
Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A |
Names |
Cam-PDE 1A, 61 kDa Cam-PDE, hCam-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5136 |
EC number |
3.1.4.17: Phosphoric diester 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
1 structures for P54750
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P54750-F1 | Predicted | AlphaFoldDB |
400 variants for P54750
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA349823921 rs1264022258 |
5 | A>T | No |
ClinGen gnomAD |
|
|
CA349823915 rs1468021866 |
6 | T>A | No |
ClinGen TOPMed |
|
|
CA349823909 rs1187313277 |
7 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2012971 rs201395197 |
8 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2012970 rs374930760 |
10 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1336688907 CA349823869 |
12 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 13 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2012968 rs368798363 |
14 | T>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs368798363 CA62176433 |
14 | T>N | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs745618199 CA2012967 |
15 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374693113 CA2012966 |
19 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349823816 rs1382328550 |
20 | T>I | No |
ClinGen gnomAD |
|
|
rs1323492567 CA349823811 |
21 | G>E | No |
ClinGen gnomAD |
|
|
rs777709697 CA2012963 |
26 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs144085392 CA2012964 |
26 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 27 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 27 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2012962 rs756150628 |
28 | W>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1614003 rs752732676 CA2012961 COSM1614004 |
30 | R>C | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs137961386 CA2012959 |
30 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137961386 COSM1530328 COSM1530329 CA2012960 |
30 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2012958 rs751941346 |
33 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1251313197 CA349823722 |
34 | I>T | No |
ClinGen gnomAD |
|
|
rs1190551510 CA349727973 |
37 | C>Y | No |
ClinGen gnomAD |
|
|
rs138687873 CA2012909 |
39 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138687873 CA61626150 |
39 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 41 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349727926 rs1213395255 |
44 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA349727923 rs1333153773 |
44 | R>S | No |
ClinGen gnomAD |
|
|
CA349727921 rs1187361912 |
45 | G>S | No |
ClinGen TOPMed |
|
|
CA2012907 rs141123572 |
47 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748114714 CA349727897 |
48 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2012906 rs769536447 |
48 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA2012904 rs776367682 |
49 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747041009 CA2012902 |
50 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs146808624 CA2012900 |
51 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2012899 rs372375465 |
53 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 59 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1418750796 CA349727821 |
59 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA349727819 rs1476116222 |
60 | A>T | No |
ClinGen gnomAD |
|
|
CA2012896 rs757494514 |
62 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs149743969 CA2012894 |
64 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1255336586 CA349727794 |
64 | E>V | No |
ClinGen gnomAD |
|
|
rs1222907719 CA349727785 |
65 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 67 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2012893 rs756644455 |
68 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437720616 CA349727769 |
68 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1302947082 CA349727759 |
69 | D>E | No |
ClinGen gnomAD |
|
|
CA349727764 rs765923543 |
69 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2012891 rs765923543 |
69 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA349727756 rs1574190682 |
70 | E>K | No |
ClinGen Ensembl |
|
|
CA2012857 rs770212219 |
76 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs755533201 CA349742169 |
83 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2012855 rs781623349 |
83 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1359371836 CA349742151 |
85 | Q>R | No |
ClinGen gnomAD |
|
|
rs771208488 CA2012853 |
87 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349742135 rs771208488 |
87 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771208488 CA61648455 |
87 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2012850 rs374717043 |
90 | P>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs552377252 CA2012851 |
90 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 91 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349742068 rs763837353 |
94 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370415229 CA2012848 |
94 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1013652 COSM3356024 COSM1013653 CA2012849 rs763837353 |
94 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1169764046 CA349742056 |
95 | D>Y | No |
ClinGen gnomAD |
|
|
rs1189531730 CA349742016 |
98 | A>S | No |
ClinGen gnomAD |
|
|
CA2012847 rs761155078 |
103 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1252203134 CA349741957 |
103 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA349741948 rs1489400463 |
104 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2012846 rs767396053 |
104 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA349741919 rs1225988822 |
106 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 106 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA61648404 rs924187135 |
108 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 111 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1160196596 CA349741843 |
111 | K>R | No |
ClinGen TOPMed |
|
|
rs1305325080 CA349741828 |
112 | P>R | No |
ClinGen gnomAD |
|
|
COSM107152 rs145482728 CA61648392 |
114 | E>K | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs145482728 CA2012845 |
114 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs774318160 CA2012844 |
116 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574116019 CA349741751 |
118 | F>L | No |
ClinGen Ensembl |
|
|
rs763166226 CA2012842 |
119 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM228893 rs770985972 COSM3391332 CA349741744 COSM228892 |
119 | R>W | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA349741693 rs1559237970 |
123 | H>N | No |
ClinGen Ensembl |
|
|
rs1298111741 CA349741686 |
123 | H>R | No |
ClinGen gnomAD |
|
|
rs769989056 CA2012840 |
126 | Q>P | No |
ClinGen ExAC |
|
|
CA2012839 rs748558866 |
131 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA349741570 rs1416984917 |
132 | E>G | No |
ClinGen gnomAD |
|
|
CA61648342 rs934606725 |
133 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2012819 rs150591070 |
134 | M>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA349740704 rs1574097910 |
134 | M>R | No |
ClinGen Ensembl |
|
|
rs1000387885 CA61644502 |
136 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs747334904 CA2012818 |
136 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776126222 CA2012817 |
137 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253911793 CA349740612 |
138 | T>A | No |
ClinGen gnomAD |
|
|
rs1182193109 CA349740602 |
138 | T>I | No |
ClinGen gnomAD |
|
|
rs772687702 CA2012816 |
140 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2012815 rs748850118 |
141 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA349740503 rs1260550653 |
142 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755854827 CA2012813 |
146 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2012812 rs747745891 |
148 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1414177193 CA349740332 |
149 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 150 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2012811 rs780853926 |
151 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA2012809 rs148461027 |
152 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2012808 rs766387436 |
153 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA61644422 rs766387436 |
153 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157727238 CA349740200 |
155 | K>Q | No |
ClinGen gnomAD |
|
|
CA2012787 rs758350847 |
156 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349739554 rs1372078919 |
156 | D>V | No |
ClinGen gnomAD |
|
|
CA2012788 rs758350847 |
156 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466511615 CA349739542 |
157 | V>D | No |
ClinGen gnomAD |
|
|
rs1186358768 CA349739550 |
157 | V>I | No |
ClinGen gnomAD |
|
|
rs750298957 CA2012786 |
161 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs369079543 CA2012783 |
163 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757389582 CA2012782 |
166 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs757389582 CA349739418 |
166 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1338896657 CA349739374 |
169 | E>G | No |
ClinGen gnomAD |
|
|
rs1377570136 CA349739332 |
172 | G>E | No |
ClinGen TOPMed |
|
|
rs1367055931 CA349739339 |
172 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 172 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA61642465 rs1001809091 |
173 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs760770808 CA2012779 |
178 | F>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753129782 CA61642450 |
178 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325454318 CA349739245 |
179 | M>I | No |
ClinGen gnomAD |
|
|
CA61642444 rs573884799 |
179 | M>V | No |
ClinGen 1000Genomes |
|
|
CA349739208 rs1395220224 |
183 | L>M | No |
ClinGen gnomAD |
|
|
CA349739144 rs1251189425 |
186 | R>S | No |
ClinGen gnomAD |
|
|
CA349739127 rs1390424085 |
188 | D>E | No |
ClinGen gnomAD |
|
|
COSM418970 CA349739133 COSM418969 rs775065809 |
188 | D>N | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs771550733 CA2012774 |
188 | D>V | No |
ClinGen ExAC |
|
|
CA2012775 rs775065809 |
188 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761433143 CA2012773 |
189 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs775971295 CA2012772 |
190 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1248959075 CA349739103 |
191 | N>S | No |
ClinGen gnomAD |
|
|
rs768383143 CA2012771 |
192 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1013644 CA2012770 rs199972789 COSM1013645 |
192 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA61641875 rs868714710 |
196 | P>S | No |
ClinGen gnomAD |
|
|
rs1345381603 CA349738695 |
197 | V>L | No |
ClinGen gnomAD |
|
|
rs917433474 CA61641872 |
202 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs369452974 CA61641869 |
202 | T>I | No |
ClinGen ESP |
|
|
rs1214650239 CA349738631 |
203 | F>L | No |
ClinGen TOPMed |
|
|
rs988982213 CA61641868 |
204 | A>V | No |
ClinGen Ensembl |
|
|
rs751949380 CA2012755 |
206 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751949380 CA2012756 |
206 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767848851 CA2012757 |
206 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs767032766 CA2012754 |
207 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349738569 COSM418971 rs1393682140 COSM418972 |
208 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA349738552 rs1203686944 |
209 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 211 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2012750 rs760376080 |
215 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1469939297 CA349738371 |
220 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA349738353 rs1478235250 |
221 | L>* | No |
ClinGen TOPMed |
|
|
CA61641760 rs1000241286 |
222 | I>S | No |
ClinGen Ensembl |
|
|
CA2012748 rs771694320 |
225 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs745706163 CA2012747 |
227 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1162085335 CA349738198 |
230 | T>S | No |
ClinGen gnomAD |
|
|
rs1472953377 CA349738160 |
232 | H>P | No |
ClinGen gnomAD |
|
|
CA2012743 COSM1403808 COSM1403809 rs375462173 |
234 | I>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs749124309 CA2012744 |
234 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756214774 CA2012742 |
235 | M>V | No |
ClinGen ExAC TOPMed |
|
|
CA349738034 rs1484329542 |
237 | H>P | No |
ClinGen gnomAD |
|
|
CA61641685 rs769421406 |
239 | G>D | No |
ClinGen TOPMed |
|
|
rs769421406 CA61641679 |
239 | G>V | No |
ClinGen TOPMed |
|
|
rs748226548 CA2012741 |
240 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA349737974 rs1177483901 |
240 | I>V | No |
ClinGen TOPMed |
|
|
CA2012737 rs766601538 |
241 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2012739 rs535630464 |
241 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs535630464 CA2012738 |
241 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA61638298 rs931717408 |
242 | H>N | No |
ClinGen Ensembl |
|
|
rs780468352 CA61638297 |
243 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA2012717 rs780468352 |
243 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs758752220 CA349736778 |
244 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2012716 rs758752220 |
244 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1236096213 CA349736766 |
245 | T>A | No |
ClinGen TOPMed |
|
|
CA2012715 rs750782777 |
246 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 249 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2012713 rs200135261 |
252 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1164390801 CA349736603 |
253 | V>I | No |
ClinGen TOPMed |
|
|
rs1292357931 CA349736473 |
257 | A>T | No |
ClinGen gnomAD |
|
|
rs1248438460 CA349736470 |
257 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766958999 CA2012711 |
259 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA349736323 rs1447842270 |
262 | E>G | No |
ClinGen gnomAD |
|
|
CA349736328 rs1168162989 |
262 | E>K | No |
ClinGen gnomAD |
|
|
CA349736298 rs1392281752 |
263 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs759193359 CA2012710 |
264 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA349736248 rs1266583711 |
265 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1489164948 CA349736224 |
266 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 266 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349736211 rs1203855849 |
267 | T>I | No |
ClinGen gnomAD |
|
|
rs1339559155 CA349736206 |
268 | N>D | No |
ClinGen gnomAD |
|
|
rs1276337819 CA349736174 |
269 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1329753255 CA349736122 |
273 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 273 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766041709 CA2012708 |
274 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA349736107 rs766041709 |
274 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs371630386 CA2012707 |
275 | R>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1467392348 CA349733979 |
277 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA61629344 rs141321124 |
278 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA349733953 rs1260652696 |
279 | A>G | No |
ClinGen TOPMed |
|
|
CA61629338 rs898166475 |
279 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2012689 rs146577618 |
285 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146577618 CA2012688 |
285 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs552582520 CA2012687 |
285 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs552582520 CA349733858 |
285 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2012691 rs146577618 |
285 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349733835 COSM1752168 rs1574688067 COSM1752167 COSM3933484 |
286 | S>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1202476586 CA349733829 |
287 | V>L | No |
ClinGen gnomAD |
|
|
CA349733787 rs1483821807 |
290 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1057504601 CA61629286 |
293 | V>G | No |
ClinGen Ensembl |
|
|
CA61629291 rs370366733 CA2012684 |
293 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2012683 rs370366733 |
293 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2012682 CA61629273 rs776774203 |
294 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349733698 rs768697007 |
296 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2012681 rs768697007 |
296 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349733689 rs1244189789 |
297 | Y>D | No |
ClinGen gnomAD |
|
|
rs1338852645 CA349733677 |
298 | R>* | No |
ClinGen gnomAD |
|
|
CA2012680 rs760883561 |
298 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2012679 rs148932765 |
299 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349733647 rs1319770178 |
300 | M>I | No |
ClinGen gnomAD |
|
|
CA2012678 rs149964663 |
300 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1158580384 COSM221670 CA349733599 COSM221669 |
305 | M>I | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs779152651 CA2012675 |
306 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA61629236 rs977354279 |
308 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2012674 rs191168109 |
308 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749642455 CA2012673 |
310 | N>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 311 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349733533 rs1445597045 |
315 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773524407 CA2012654 |
317 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs770308305 CA2012653 |
320 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1181776381 CA349732476 |
321 | N>S | No |
ClinGen TOPMed |
|
|
CA349732471 rs1363883874 |
322 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2012651 rs779433154 |
323 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA349732443 rs1435724677 |
324 | I>T | No |
ClinGen gnomAD |
|
|
rs868646340 CA61626312 |
326 | M>I | No |
ClinGen Ensembl |
|
|
rs745353179 CA2012649 |
327 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs147171082 CA2012650 |
327 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753711656 CA2012645 |
332 | M>L | No |
ClinGen ExAC |
|
|
CA349732317 rs1297399611 |
332 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 333 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA61626290 rs201921039 |
334 | G>S | No |
ClinGen 1000Genomes |
|
|
CA349731999 rs1559176318 |
337 | Q>H | No |
ClinGen Ensembl |
|
|
CA2012644 rs763926952 |
338 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 341 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM345258 rs756013899 COSM345257 CA2012643 |
342 | I>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA61626282 rs746332520 |
342 | I>T | No |
ClinGen gnomAD |
|
|
rs1420716532 CA349731945 |
342 | I>V | No |
ClinGen gnomAD |
|
|
rs373584098 CA2012642 |
343 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767344606 CA2012641 |
344 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482807680 CA349731900 |
346 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs774384482 CA2012639 |
349 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs774384482 CA349731867 |
349 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766619813 CA2012638 |
350 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA349731757 rs1446259195 |
352 | I>T | No |
ClinGen gnomAD |
|
|
rs750476214 CA2012567 |
354 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA349731727 rs1224835213 |
355 | A>T | No |
ClinGen gnomAD |
|
|
rs761897646 CA2012565 |
357 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA349731692 rs1161393278 |
358 | M>T | No |
ClinGen gnomAD |
|
|
rs199975395 CA2012564 |
359 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1325325897 CA349731670 |
362 | L>I | No |
ClinGen TOPMed |
|
|
CA349731636 rs1244701096 |
367 | I>L | No |
ClinGen gnomAD |
|
|
rs776201196 CA2012561 |
368 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349731619 rs1574667685 |
369 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 374 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349731579 rs1317048926 |
375 | K>Q | No |
ClinGen gnomAD |
|
|
rs369181374 CA2012558 |
379 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3962040 COSM3962039 CA2012557 COSM3962042 rs369181374 |
379 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2012559 rs762592414 |
379 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 381 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 381 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2012555 rs774364235 |
382 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747696214 CA2012556 |
382 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2012554 rs147989438 |
383 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs989297220 CA61625869 |
384 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA349731500 rs1321620913 |
387 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1349408213 CA349731476 |
390 | L>M | No |
ClinGen gnomAD |
|
|
rs867456405 COSM328111 CA61616062 COSM328110 |
392 | G>E | pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 392 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349729657 rs1481884384 |
400 | L>F | No |
ClinGen gnomAD |
|
|
CA2012527 rs749369223 |
400 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA349729648 rs1312052623 |
401 | P>L | No |
ClinGen gnomAD |
|
|
CA349729634 rs1299899331 |
403 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2012525 rs756364876 |
404 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs755544824 CA2012522 |
408 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755544824 CA2012523 |
408 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM208883 COSM208884 rs753136799 CA2012524 |
408 | R>W | large_intestine endometrium skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2012521 rs752070539 |
409 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2012519 rs761278218 |
412 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA349729577 rs1193699541 |
413 | V>M | No |
ClinGen gnomAD |
|
|
CA2012516 rs760269272 |
414 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1315730192 CA349729567 |
414 | A>V | No |
ClinGen TOPMed |
|
|
rs1429325588 CA349729555 |
416 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1429325588 CA349729553 |
416 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 416 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206902381 CA349729233 |
419 | G>V | No |
ClinGen gnomAD |
|
|
CA61613705 rs539673753 |
421 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2012499 rs753365637 |
421 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1244393693 COSM276688 CA349729207 COSM276687 |
422 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA349729194 rs1338943720 |
422 | D>V | No |
ClinGen gnomAD |
|
|
rs571121620 CA2012497 |
424 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 424 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442927623 CA349729132 |
427 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 429 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349729109 rs1336417500 |
429 | F>Y | No |
ClinGen gnomAD |
|
|
CA2012494 rs759294012 |
430 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA349729018 rs1249128932 |
436 | T>R | No |
ClinGen TOPMed |
|
|
CA2012493 rs774156354 |
437 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1457053963 CA349728971 |
439 | I>S | No |
ClinGen gnomAD |
|
|
rs770797449 CA2012492 |
440 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 441 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349728936 rs1330992888 |
442 | P>R | No |
ClinGen gnomAD |
|
|
rs1480063283 CA349728939 |
442 | P>S | No |
ClinGen TOPMed |
|
|
rs1185743051 CA349728899 |
445 | E>G | No |
ClinGen gnomAD |
|
|
CA349728905 rs1182053529 |
445 | E>K | No |
ClinGen TOPMed |
|
|
CA349728872 rs1247938317 |
447 | A>G | No |
ClinGen gnomAD |
|
|
CA349728876 rs1445690781 |
447 | A>S | No |
ClinGen gnomAD |
|
|
rs377724990 CA2012491 |
448 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201595839 CA2012490 |
449 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA349728842 rs770064634 |
450 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs770064634 CA2012489 |
450 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA61613595 rs371846119 |
451 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1169022964 CA349728824 |
451 | E>D | No |
ClinGen TOPMed |
|
|
rs371846119 CA2012487 |
451 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA61613570 COSM441931 rs553030991 COSM441932 |
452 | T>I | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1247897692 CA349728806 |
453 | S>Y | No |
ClinGen gnomAD |
|
|
rs202096938 CA61613567 |
454 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA349728785 rs540061830 |
455 | Y>C | No |
ClinGen gnomAD |
|
|
CA61613535 rs540061830 |
455 | Y>S | No |
ClinGen gnomAD |
|
|
rs1328160672 CA349728762 |
457 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA349728766 rs1328160672 |
457 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2012486 rs768892029 |
458 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2012473 rs773338818 |
460 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2012472 rs765243376 |
461 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762022870 CA2012471 |
462 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA2012470 rs145083118 |
463 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200270257 CA349728631 |
465 | G>E | No |
ClinGen gnomAD |
|
|
CA349728619 rs1202164597 |
467 | H>R | No |
ClinGen gnomAD |
|
|
rs747193282 CA2012468 |
467 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs775719902 CA2012467 |
468 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764692634 CA349728608 |
469 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764692634 CA2012466 |
469 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349728597 rs1203009689 |
470 | D>E | No |
ClinGen gnomAD |
|
|
rs998072977 CA61613097 |
471 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746212329 CA2012465 |
472 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA349728578 rs757725272 |
474 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs757725272 CA349728577 |
474 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA2012463 rs757725272 |
474 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 475 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs76955098 CA2012462 |
475 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780695371 CA2012461 |
476 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 477 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349728547 rs1189845486 |
479 | G>D | No |
ClinGen TOPMed |
|
|
rs751294326 CA2012459 |
481 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA349728526 rs1415499016 |
482 | S>N | No |
ClinGen TOPMed |
|
|
CA61613047 rs907179460 |
483 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1468662903 CA349728511 |
484 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 485 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2012457 rs758316258 |
487 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1398006488 CA349728485 |
488 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs532092704 CA2012454 |
489 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1277731579 CA349728464 |
491 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA349728467 rs1406055442 |
491 | S>T | No |
ClinGen gnomAD |
|
|
CA349728457 rs1327709031 |
493 | A>T | No |
ClinGen TOPMed |
|
|
CA349728445 rs1416936808 |
495 | V>M | No |
ClinGen TOPMed |
|
|
CA2012452 rs776583592 |
496 | D>G | No |
ClinGen ExAC |
|
|
CA349728437 rs1291836330 |
496 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 496 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233191389 CA349728432 |
497 | L>M | No |
ClinGen gnomAD |
|
|
CA2012450 rs776615015 |
500 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs775832177 CA2012449 |
501 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264998017 CA349728401 |
501 | K>R | No |
ClinGen gnomAD |
|
|
CA2012448 rs772156813 |
502 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2012446 rs774653603 |
506 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 506 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs879106755 CA61612940 |
507 | I>T | No |
ClinGen Ensembl |
|
|
rs1574609685 CA349728363 |
507 | I>V | No |
ClinGen Ensembl |
|
|
rs771441131 CA2012445 |
509 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 513 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2012444 rs200296417 |
513 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200296417 CA349728320 |
513 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349728299 rs1337502335 |
515 | W>C | No |
ClinGen TOPMed |
|
| TCGA novel | 516 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195326334 CA349728286 |
517 | E>G | No |
ClinGen TOPMed |
|
|
CA2012443 rs370742608 |
517 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA349728288 rs370742608 |
517 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs568784697 CA2012442 |
519 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1486781834 CA349728265 |
520 | A>V | No |
ClinGen TOPMed |
|
|
rs745356470 CA2012396 |
522 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778754588 CA2012395 |
523 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs372556064 CA2012394 |
523 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2012393 rs199895074 |
524 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 525 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2012392 rs777373259 |
527 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756086084 CA2012391 |
528 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs756086084 CA349798577 |
528 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2012390 rs752647044 |
529 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1405263873 CA349798520 |
532 | F>L | No |
ClinGen gnomAD |
|
|
CA349798474 rs1222508608 |
535 | Q>* | No |
ClinGen TOPMed |
|
|
rs370497015 CA2012388 |
535 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA349798465 rs1270414992 |
535 | Q>R | No |
ClinGen TOPMed |
|
|
CA349798456 rs1377835625 |
536 | Q>Q | No |
ClinGen gnomAD |
No associated diseases with P54750
4 regional properties for P54750
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain | 142 - 522 | IPR002073 |
| domain | HD/PDEase domain | 216 - 389 | IPR003607 |
| domain | 3'5'-cyclic nucleotide phosphodiesterase N-terminal | 73 - 133 | IPR013706 |
| conserved_site | 3'5'-cyclic nucleotide phosphodiesterase, conserved site | 259 - 270 | IPR023174 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.4.17 | Phosphoric diester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3',5'-cyclic-nucleotide phosphodiesterase activity | Catalysis of the reaction: a nucleoside 3',5'-cyclic phosphate + H2O = a nucleoside 5'-phosphate. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| calmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activity | Catalysis of the reactions: nucleoside 3',5'-cyclic GMP + H2O = GMP + H+; this activity is activated by binding to calcium-bound calmodulin. |
| calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity | Catalysis of the reactions: 3',5'-cyclic AMP + H2O = AMP + H+ and 3',5'-cyclic GMP + H2O = GMP + H+; this activity is activated by binding to calcium-bound calmodulin. |
| metal ion binding | Binding to a metal ion. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P14100 | PDE1A | Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A | Bos taurus (Bovine) | PR |
| O60658 | PDE8A | High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A | Homo sapiens (Human) | PR |
| P27815 | PDE4A | cAMP-specific 3',5'-cyclic phosphodiesterase 4A | Homo sapiens (Human) | EV SS |
| Q07343 | PDE4B | cAMP-specific 3',5'-cyclic phosphodiesterase 4B | Homo sapiens (Human) | EV SS |
| Q08493 | PDE4C | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Homo sapiens (Human) | EV SS |
| Q08499 | PDE4D | cAMP-specific 3',5'-cyclic phosphodiesterase 4D | Homo sapiens (Human) | EV |
| O76083 | PDE9A | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Homo sapiens (Human) | PR |
| Q9Y233 | PDE10A | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Homo sapiens (Human) | PR |
| Q9HCR9 | PDE11A | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A | Homo sapiens (Human) | SS |
| P35913 | PDE6B | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Homo sapiens (Human) | PR |
| P51160 | PDE6C | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' | Homo sapiens (Human) | PR |
| O76074 | PDE5A | cGMP-specific 3',5'-cyclic phosphodiesterase | Homo sapiens (Human) | EV |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGSSATEIEE | LENTTFKYLT | GEQTEKMWQR | LKGILRCLVK | QLERGDVNVV | DLKKNIEYAA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SVLEAVYIDE | TRRLLDTEDE | LSDIQTDSVP | SEVRDWLAST | FTRKMGMTKK | KPEEKPKFRS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IVHAVQAGIF | VERMYRKTYH | MVGLAYPAAV | IVTLKDVDKW | SFDVFALNEA | SGEHSLKFMI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YELFTRYDLI | NRFKIPVSCL | ITFAEALEVG | YSKYKNPYHN | LIHAADVTQT | VHYIMLHTGI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MHWLTELEIL | AMVFAAAIHD | YEHTGTTNNF | HIQTRSDVAI | LYNDRSVLEN | HHVSAAYRLM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QEEEMNILIN | LSKDDWRDLR | NLVIEMVLST | DMSGHFQQIK | NIRNSLQQPE | GIDRAKTMSL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ILHAADISHP | AKSWKLHYRW | TMALMEEFFL | QGDKEAELGL | PFSPLCDRKS | TMVAQSQIGF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IDFIVEPTFS | LLTDSTEKIV | IPLIEEASKA | ETSSYVASSS | TTIVGLHIAD | ALRRSNTKGS |
| 490 | 500 | 510 | 520 | 530 | |
| MSDGSYSPDY | SLAAVDLKSF | KNNLVDIIQQ | NKERWKELAA | QEARTSSQKC | EFIHQ |