P27815
EV
SS
Gene name |
PDE4A (DPDE2) |
Protein name |
cAMP-specific 3',5'-cyclic phosphodiesterase 4A |
Names |
NKR-P1A, CD161 antigen-like family member A, Lymphocyte antigen 55A, Ly-55A, NKR-P1.7, Natural killer cell surface protein P1-2, NKR-P1 2, CD161 antigen-like family member B, Lymphocyte antigen 55b, Ly-55b, NKR-P1 34, Natural killer cell surface protein NKR-P1B allele SJL/BALB, NKR-P1B, CD161 antigen-like family member C, Lymphocyte antigen 55c, Ly-55c, NK1.1, NKR-P1.9, NKR-P1C, Natural killer cell surface protein P1-40, NKR-P1 40, DPDE2, PDE46 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5141 |
EC number |
3.1.4.53: Phosphoric diester hydrolases |
Protein Class |
CYCLIC NUCLEOTIDE PHOSPHODIESTERASE (PTHR11347) |
Descriptions
PDE4 encodes for cAMP-specific 3',5'-cyclic phosphodiesterase, involved in the hydrolysis of cAMP and cGMP that plays important roles in many physiological processes. The carboxyl-terminal half of UCR1 interacts with the amino-terminal region of UCR2, and UCR2 domain occludes the active site of PDEase domain.
Autoinhibitory domains (AIDs)
Target domain |
357-686 (3'5'-cyclic nucleotide phosphodiesterase, catalytic domain) |
Relief mechanism |
PTM |
Assay |
|
Target domain |
357-686 (3'5'-cyclic nucleotide phosphodiesterase, catalytic domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Houslay MD et al. (2010) "Putting the lid on phosphodiesterase 4", Nature biotechnology, 28, 38-40
- Beard MB et al. (2000) "UCR1 and UCR2 domains unique to the cAMP-specific phosphodiesterase family form a discrete module via electrostatic interactions", The Journal of biological chemistry, 275, 10349-58
- Burgin AB et al. (2010) "Design of phosphodiesterase 4D (PDE4D) allosteric modulators for enhancing cognition with improved safety", Nature biotechnology, 28, 63-70
Autoinhibited structure
Activated structure
4 structures for P27815
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2QYK | X-ray | 210 A | A/B | 351-683 | PDB |
| 3I8V | X-ray | 225 A | A/B | 351-683 | PDB |
| 3TVX | X-ray | 284 A | A/B | 351-683 | PDB |
| AF-P27815-F1 | Predicted | AlphaFoldDB |
692 variants for P27815
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA403980938 rs1313309650 |
2 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9194498 rs775253863 |
3 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9194499 rs773511169 |
4 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763830408 CA9194500 |
4 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403980956 rs773511169 |
4 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9194501 rs773392350 |
5 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA403980975 rs1342706326 |
6 | V>A | No |
ClinGen TOPMed |
|
|
rs761085350 CA305196611 |
6 | V>I | No |
ClinGen Ensembl |
|
|
rs1278290606 CA403980979 |
7 | P>A | No |
ClinGen gnomAD |
|
|
rs763441183 CA9194502 |
7 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1424575157 CA403980998 |
9 | E>K | No |
ClinGen TOPMed |
|
|
CA9194503 rs766781818 |
10 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs200634507 CA305196625 |
12 | L>P | No |
ClinGen Ensembl |
|
|
CA403981045 rs1307061010 |
12 | L>V | No |
ClinGen gnomAD |
|
|
rs933847606 CA305196628 |
14 | L>V | No |
ClinGen TOPMed |
|
|
CA9194506 rs767541621 |
18 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA403981136 rs1179815066 |
19 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9194507 rs752794821 |
19 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371454337 CA9194509 |
20 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1173986650 CA403981172 |
21 | E>K | No |
ClinGen gnomAD |
|
|
rs757137660 CA9194511 |
22 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1377068114 CA403981197 |
22 | G>C | No |
ClinGen gnomAD |
|
|
rs757137660 CA403981198 |
22 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA305196675 rs1001807110 |
24 | A>P | No |
ClinGen Ensembl |
|
|
CA9194513 rs745844347 |
28 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745844347 CA403981307 |
28 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392614862 CA403981319 |
29 | P>L | No |
ClinGen gnomAD |
|
|
rs1210388413 CA403981316 |
29 | P>S | No |
ClinGen TOPMed |
|
|
rs1217017897 CA403981336 |
30 | P>R | No |
ClinGen TOPMed |
|
|
CA403981357 rs1461617167 |
32 | H>Y | No |
ClinGen gnomAD |
|
|
CA403981432 rs1235712284 |
35 | R>Q | No |
ClinGen gnomAD |
|
|
rs1306026348 CA403981450 |
36 | Q>R | No |
ClinGen gnomAD |
|
|
rs989296441 CA305196682 |
37 | P>L | No |
ClinGen Ensembl |
|
|
CA403981497 rs1346189979 |
38 | R>P | No |
ClinGen gnomAD |
|
|
rs1342683511 CA403981538 |
41 | I>N | No |
ClinGen TOPMed |
|
|
rs1252093571 CA403981549 |
42 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA403981548 rs1252093571 |
42 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1481768577 CA403981553 |
42 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1481768577 CA403981560 |
42 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9194517 rs768128112 |
44 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746532397 CA9194516 |
44 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746532397 CA403981601 |
44 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403981633 rs1239496338 |
45 | Q>P | No |
ClinGen gnomAD |
|
|
rs1194199412 CA403981661 |
46 | R>H | No |
ClinGen gnomAD |
|
|
CA9194519 rs763203849 |
47 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403981700 rs1167993234 |
48 | Y>H | No |
ClinGen TOPMed |
|
|
rs766806613 CA9194520 |
49 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA403981747 rs1398952354 |
50 | D>H | No |
ClinGen gnomAD |
|
|
rs759983353 CA9194522 |
51 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs768022570 CA9194523 |
51 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403981813 rs1412756226 |
52 | A>V | No |
ClinGen gnomAD |
|
|
CA305196730 rs976073679 |
53 | E>Q | No |
ClinGen Ensembl |
|
|
CA403981847 rs1386537334 |
54 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs752704951 CA9194524 |
55 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225545987 CA403981866 |
55 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1257437320 CA403981880 |
56 | E>K | No |
ClinGen gnomAD |
|
|
CA403981919 rs754143468 |
57 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9194527 rs754143468 |
57 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9194526 rs201432982 |
57 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1487493675 CA403981927 |
58 | E>* | No |
ClinGen gnomAD |
|
|
rs756974643 CA9194528 |
59 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs756974643 CA403981945 |
59 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403981944 rs1190382397 |
59 | R>W | No |
ClinGen gnomAD |
|
|
rs185285765 CA305196769 |
61 | P>A | No |
ClinGen 1000Genomes |
|
|
rs1168116436 CA403981999 |
61 | P>Q | No |
ClinGen gnomAD |
|
|
rs112190412 CA403982067 |
62 | H>P | No |
ClinGen gnomAD |
|
|
rs778811686 CA9194529 |
62 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs112190412 CA305196772 |
62 | H>R | No |
ClinGen gnomAD |
|
|
CA403982081 rs1348613533 |
63 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1348613533 CA403982083 |
63 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs750266516 CA9194530 |
65 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1364539180 CA403982159 |
66 | E>Q | No |
ClinGen gnomAD |
|
|
rs1398310543 CA403982211 |
67 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1277801060 CA403982213 |
67 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 68 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235189471 CA403982277 |
69 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1258895781 CA403982251 |
69 | D>H | No |
ClinGen TOPMed |
|
|
rs1235189471 CA403982270 |
69 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403982293 rs1271394200 |
70 | A>T | No |
ClinGen gnomAD |
|
|
CA403982347 rs1343236274 |
71 | M>I | No |
ClinGen TOPMed |
|
|
rs758355259 CA9194531 |
71 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA403982311 rs1319815418 |
71 | M>V | No |
ClinGen gnomAD |
|
|
rs1261038725 CA403982422 |
74 | S>R | No |
ClinGen gnomAD |
|
|
CA403982439 rs1486729865 |
75 | D>Y | No |
ClinGen gnomAD |
|
|
CA305196786 rs909036275 |
76 | R>P | No |
ClinGen gnomAD |
|
|
CA403982469 rs909036275 |
76 | R>Q | No |
ClinGen gnomAD |
|
|
CA403982503 rs766841699 |
78 | G>D | No |
ClinGen TOPMed |
|
|
CA403982493 rs1189395445 |
78 | G>S | No |
ClinGen gnomAD |
|
|
CA305196788 rs766841699 |
78 | G>V | No |
ClinGen TOPMed |
|
|
CA305196792 rs200639546 |
80 | R>C | No |
ClinGen gnomAD |
|
|
rs200639546 CA403982529 |
80 | R>G | No |
ClinGen gnomAD |
|
|
CA403982530 rs1423681092 |
80 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1347534873 CA403982555 |
81 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1288547001 CA403982587 |
83 | R>H | No |
ClinGen gnomAD |
|
|
CA403982599 rs1351824551 |
84 | M>I | No |
ClinGen gnomAD |
|
|
rs1400420970 CA403982623 |
85 | S>F | No |
ClinGen TOPMed |
|
|
CA403982654 rs1376266555 |
86 | W>C | No |
ClinGen gnomAD |
|
|
rs1282458929 CA403982670 |
87 | P>L | No |
ClinGen gnomAD |
|
|
CA9194533 rs746486714 |
87 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA305196822 rs995456976 |
88 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs544122910 CA9194534 |
88 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403982718 rs1221095891 |
90 | F>S | No |
ClinGen gnomAD |
|
|
CA305196846 rs1023848537 |
91 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA305196842 rs201974746 |
91 | H>Y | No |
ClinGen gnomAD |
|
|
rs896204536 CA305196859 |
96 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA305196855 rs759718061 |
96 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs759718061 CA403982830 |
96 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759718061 CA305196856 |
96 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1177348281 CA403982937 |
100 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9194535 rs780678054 |
101 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403982970 rs1158366621 |
102 | G>R | No |
ClinGen gnomAD |
|
|
CA403983012 rs1568362651 |
104 | S>C | No |
ClinGen Ensembl |
|
|
rs769350467 CA9194537 |
104 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs563711317 CA305196879 |
105 | S>R | No |
ClinGen gnomAD |
|
|
rs1332450436 CA403983068 |
106 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1183138828 CA403991857 |
109 | E>G | No |
ClinGen gnomAD |
|
|
rs202082451 CA9194592 |
109 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305213724 rs202082451 |
109 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373772901 CA403991862 |
110 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA305213728 rs373772901 |
110 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1239312765 CA403991866 |
111 | E>K | No |
ClinGen TOPMed |
|
|
CA305213731 rs200307791 |
112 | N>T | No |
ClinGen Ensembl |
|
|
CA403991884 rs1159588436 |
113 | G>E | No |
ClinGen gnomAD |
|
|
CA403991883 rs1188270633 |
113 | G>R | No |
ClinGen TOPMed |
|
|
CA9194594 rs201148820 |
114 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403991897 rs1297805178 |
115 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1297805178 CA403991895 |
115 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs545207308 CA9194596 |
116 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545207308 CA403991899 |
116 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1450259068 CA403991908 |
117 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs755357213 CA9194597 |
119 | G>R | No |
ClinGen ExAC |
|
|
CA9194598 rs377410221 |
120 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305213735 rs199602831 |
120 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199602831 CA9194599 |
120 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305213739 rs560065203 |
122 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1451859057 CA403991963 |
122 | P>S | No |
ClinGen gnomAD |
|
| rs1555731362 | 123 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9194600 rs770446820 |
123 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9194601 rs777941698 |
125 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA403992052 rs1211561144 |
127 | A>T | No |
ClinGen gnomAD |
|
|
CA9194603 rs370427610 |
127 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403992109 rs1457416760 |
129 | P>L | No |
ClinGen TOPMed |
|
|
rs200646979 CA305213779 |
132 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200646979 CA9194605 |
132 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403992175 rs1416399947 |
134 | H>L | No |
ClinGen gnomAD |
|
|
CA305213785 rs201856534 |
134 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9194606 rs199819767 |
135 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9194607 rs199819767 |
135 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9194611 rs761381130 |
136 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs764036422 CA9194610 CA9194609 |
136 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 137 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764931598 CA9194612 |
137 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403992239 rs867750481 |
138 | A>P | No |
ClinGen gnomAD |
|
|
CA305213795 rs867750481 |
138 | A>T | No |
ClinGen gnomAD |
|
|
rs1599429535 CA403992249 |
138 | A>V | No |
ClinGen Ensembl |
|
|
CA9194614 rs199842964 |
139 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 140 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403992306 rs1275825691 |
142 | R>C | No |
ClinGen gnomAD |
|
|
CA9194615 rs372332466 |
142 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753124606 CA9194616 |
143 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM343501 rs1214475711 CA403992441 |
149 | R>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA9194619 rs201316500 |
149 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA305213823 rs993895267 |
153 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs201769673 CA305213827 |
154 | Y>C | No |
ClinGen Ensembl |
|
|
rs1054225907 CA305213837 |
156 | M>V | No |
ClinGen TOPMed |
|
|
CA9194621 rs368626105 |
158 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746041055 CA9194622 |
159 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1350225507 CA403992669 |
160 | T>P | No |
ClinGen TOPMed |
|
|
CA403992685 rs1362740630 |
161 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 162 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9194624 rs775211764 |
163 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201066388 CA305213848 |
163 | R>W | No |
ClinGen gnomAD |
|
|
rs760467814 CA9194625 |
166 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs760467814 CA403992781 |
166 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 166 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403992799 rs1417486279 |
168 | T>I | No |
ClinGen TOPMed |
|
|
rs371410907 CA9194628 |
170 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371410907 CA9194627 |
170 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9194629 rs200399714 |
171 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs774192631 CA9194651 |
173 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9194652 rs201432856 |
178 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 178 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776798161 CA9194671 |
184 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403994292 rs1403742302 |
186 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9194674 rs184667824 |
189 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9194673 rs201404891 |
189 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA403994381 rs1307560848 |
190 | S>I | No |
ClinGen gnomAD |
|
|
CA403994375 rs1307560848 |
190 | S>N | No |
ClinGen gnomAD |
|
|
rs1471202678 CA403994402 |
191 | V>A | No |
ClinGen TOPMed |
|
|
CA403994390 rs1234243707 |
191 | V>I | No |
ClinGen gnomAD |
|
|
CA9194677 rs766408578 |
192 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA403994419 rs1203182984 |
192 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs755125636 CA9194679 |
193 | S>I | No |
ClinGen ExAC |
|
|
CA9194681 rs200997576 |
193 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA305215361 rs962493442 |
195 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs749206793 CA9194685 |
197 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA403994544 rs1178815058 |
199 | T>N | No |
ClinGen TOPMed |
|
|
rs200491822 CA305215368 |
200 | N>Y | No |
ClinGen gnomAD |
|
|
rs1443812372 CA403994616 |
202 | P>L | No |
ClinGen TOPMed |
|
|
rs867258304 CA305215397 |
202 | P>S | No |
ClinGen Ensembl |
|
|
rs1599433888 CA403994633 |
203 | V>A | No |
ClinGen Ensembl |
|
|
CA9194691 rs201070412 |
203 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9194692 rs201070412 |
203 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202173827 CA403994654 |
205 | S>C | No |
ClinGen TOPMed |
|
|
rs202173827 CA305215402 |
205 | S>G | No |
ClinGen TOPMed |
|
|
CA403994692 rs1303666556 |
206 | N>S | No |
ClinGen gnomAD |
|
|
rs746636718 CA9194713 |
208 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201436121 CA305216157 |
208 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA305216166 rs199502182 |
210 | P>L | No |
ClinGen gnomAD |
|
|
rs199502182 CA403995620 |
210 | P>Q | No |
ClinGen gnomAD |
|
|
rs1424498009 CA403995595 |
210 | P>S | No |
ClinGen gnomAD |
|
|
CA403995662 rs1288389575 COSM3692309 COSM3692310 |
213 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs759580657 CA9194719 |
214 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759580657 CA403995678 |
214 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403995711 rs1316820987 |
215 | T>I | No |
ClinGen gnomAD |
|
|
rs1286242826 CA403995782 |
219 | K>N | No |
ClinGen gnomAD |
|
|
rs1355465346 CA403995786 |
220 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 221 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs540110605 CA305216180 |
223 | S>P | No |
ClinGen 1000Genomes |
|
|
CA9194746 rs781086260 |
224 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9194747 rs758300846 |
225 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201996098 CA9194748 |
226 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751063386 CA9194749 |
227 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA403996172 rs1356050209 |
229 | Q>* | No |
ClinGen gnomAD |
|
|
CA9194750 rs754491641 |
229 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 232 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403996238 rs747758986 |
232 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9194752 rs747758986 |
232 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755785279 CA403996292 |
234 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9194753 rs755785279 |
234 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9194754 rs779188872 |
236 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA403996303 rs1219796149 |
236 | E>K | No |
ClinGen gnomAD |
|
|
CA9194755 rs563255061 |
244 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403996622 rs28395783 |
245 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9194756 rs28395783 |
245 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747091066 CA9194758 |
251 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1171295800 CA403996788 |
251 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9194760 rs776885244 |
255 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1350073063 CA403996889 |
255 | S>N | No |
ClinGen gnomAD |
|
|
rs1300684721 CA403996904 |
256 | E>D | No |
ClinGen gnomAD |
|
|
rs1406400943 CA403996897 |
256 | E>K | No |
ClinGen gnomAD |
|
|
rs1344301921 CA403996954 |
258 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1568377099 CA403997022 |
260 | H>R | No |
ClinGen Ensembl |
|
|
CA403997007 rs1599436722 |
260 | H>Y | No |
ClinGen Ensembl |
|
|
rs1354748987 CA403999181 |
263 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 264 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770030861 CA9194800 |
268 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 271 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149159162 CA9194801 |
272 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9194803 rs771196721 |
276 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1374183874 CA403999526 |
276 | M>T | No |
ClinGen gnomAD |
|
|
CA403999568 rs28395786 |
278 | R>G | No |
ClinGen TOPMed |
|
|
CA305217974 rs28395786 |
278 | R>W | No |
ClinGen TOPMed |
|
|
rs909510240 CA305217977 |
280 | G>E | No |
ClinGen TOPMed |
|
|
CA305217978 rs958544914 |
288 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 289 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139027554 CA305217980 |
291 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768655063 CA9194832 |
295 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs200315710 CA305219021 |
298 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 299 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775940833 CA9194833 |
300 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305219032 rs984374692 |
300 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1185837386 CA404000393 |
301 | P>L | No |
ClinGen gnomAD |
|
|
rs1445585133 CA404000388 |
301 | P>S | No |
ClinGen gnomAD |
|
|
rs201141869 CA305219042 |
302 | S>L | No |
ClinGen gnomAD |
|
|
rs200515047 CA9194836 |
303 | P>A | No |
ClinGen 1000Genomes ExAC |
|
|
CA305219051 rs200358159 |
303 | P>L | No |
ClinGen Ensembl |
|
|
rs200515047 CA305219046 |
303 | P>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA9194837 rs376507621 |
304 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305219061 rs201719796 CA305219068 |
305 | M>I | No |
ClinGen 1000Genomes |
|
|
rs1451806839 CA404000476 |
306 | K>R | No |
ClinGen gnomAD |
|
|
rs199600136 COSM1611491 CA9194840 COSM1611493 COSM1611492 |
307 | E>K | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs200707763 CA9194841 |
308 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs142958982 CA9194842 |
308 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1325537 COSM1325535 COSM1325536 rs1380029803 CA404000561 |
311 | Q>E | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs539735293 CA9194843 |
313 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201202869 CA9194844 |
313 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9194846 rs758642480 |
314 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9194847 rs779771039 |
314 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779771039 CA404000617 |
314 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404000618 rs779771039 |
314 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9194849 rs375503434 |
315 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9194850 rs776691064 |
316 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404000664 rs1599448456 |
317 | R>S | No |
ClinGen Ensembl |
|
|
CA305219093 rs966613842 |
319 | S>P | No |
ClinGen Ensembl |
|
|
rs200742358 CA9194852 |
321 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA305219099 rs200742358 |
321 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201753782 CA9194855 |
323 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201753782 CA9194854 |
323 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9194853 rs772867456 |
323 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775992415 CA9194856 |
325 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 326 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404000811 rs1403614460 |
327 | P>L | No |
ClinGen gnomAD |
|
|
rs1447098910 CA404000818 |
328 | H>R | No |
ClinGen gnomAD |
|
|
CA404000833 rs1298363043 |
329 | L>S | No |
ClinGen gnomAD |
|
|
CA305219109 rs922089171 |
330 | Q>* | No |
ClinGen Ensembl |
|
|
rs150660796 CA9194857 RCV000513702 |
331 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1463902129 CA404000886 |
332 | M>L | No |
ClinGen TOPMed |
|
|
rs754411132 CA9194859 |
339 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9194861 rs372643076 |
344 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750516884 CA9194862 |
345 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA404001117 rs1189512538 |
347 | L>M | No |
ClinGen TOPMed |
|
|
rs200316343 CA9194864 |
350 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200316343 CA9194865 |
350 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1253923527 CA404001191 |
351 | N>I | No |
ClinGen TOPMed |
|
|
rs909224071 CA305219143 |
352 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA305219146 rs139928255 |
353 | P>L | No |
ClinGen ESP |
|
|
CA404001241 rs1269711202 |
354 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200058246 CA305219147 |
355 | F>L | No |
ClinGen Ensembl |
|
|
CA404001308 rs1178493956 |
357 | V>G | No |
ClinGen gnomAD |
|
|
CA9194866 rs754839864 |
358 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 360 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748065727 CA9194868 |
360 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs769628846 CA9194869 |
361 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9194870 rs777351972 |
362 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748874425 CA9194871 |
363 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs770692275 CA9194872 |
366 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 368 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284946178 CA404002234 |
369 | L>V | No |
ClinGen TOPMed |
|
|
CA9194912 rs745375870 |
372 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs199575223 CA9194913 |
374 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779633287 CA9194914 |
375 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs748527705 CA9194915 |
376 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs200883436 CA9194916 |
379 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9194917 rs769665964 |
381 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA305222268 rs146200648 |
382 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9194920 rs376916592 |
386 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404002436 rs1297832650 |
388 | G>A | No |
ClinGen TOPMed |
|
|
rs199811475 CA9194921 |
389 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199811475 CA404002441 |
389 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9194922 COSM990575 COSM1589665 rs767755139 COSM990574 |
389 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761008732 CA9194924 |
390 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA305222300 rs369309795 |
394 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9194927 rs369309795 |
394 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9194926 rs753699512 |
394 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA404002511 rs1475283660 |
395 | M>I | No |
ClinGen TOPMed |
|
|
rs533831080 CA305222318 |
395 | M>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9194929 rs749938219 |
397 | M>I | No |
ClinGen ExAC |
|
|
rs749304180 CA9194928 |
397 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305222448 rs201529049 |
402 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA9194956 rs144901748 |
402 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305222454 rs998016952 |
405 | L>M | No |
ClinGen TOPMed |
|
|
CA404002775 rs201822628 |
407 | K>I | No |
ClinGen TOPMed |
|
|
CA305222457 rs201822628 |
407 | K>R | No |
ClinGen TOPMed |
|
|
rs200310988 CA9194957 |
408 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9194958 rs201196140 |
409 | R>C | Variant assessed as Somatic; 9.246e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1219974 rs747155436 COSM1219973 CA9194959 COSM1219972 |
409 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9194961 rs777046337 |
414 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1457505373 CA404003001 |
415 | M>I | No |
ClinGen gnomAD |
|
|
CA404003017 rs1599451640 |
416 | V>G | No |
ClinGen Ensembl |
|
|
rs1292849708 CA404003012 |
416 | V>L | No |
ClinGen gnomAD |
|
|
CA305222516 rs771649978 |
418 | Y>D | No |
ClinGen Ensembl |
|
|
rs762728861 CA9194965 CA404003098 |
419 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762728861 CA9194966 |
419 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200635711 CA9194967 |
421 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305222537 rs202029219 |
423 | E>K | No |
ClinGen Ensembl |
|
|
CA305222546 rs149107875 |
426 | Y>H | No |
ClinGen ESP gnomAD |
|
|
rs183936414 CA404003307 |
428 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs183936414 CA9194970 |
428 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9194971 rs755812532 |
429 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs990693372 CA305222559 |
431 | A>G | No |
ClinGen TOPMed |
|
|
rs1207142599 CA404003392 |
431 | A>P | No |
ClinGen gnomAD |
|
|
rs1247811770 CA404003461 |
433 | H>R | No |
ClinGen gnomAD |
|
|
CA404003490 rs1462090690 |
435 | S>G | No |
ClinGen gnomAD |
|
|
CA404003550 rs1568382600 |
438 | A>T | No |
ClinGen Ensembl |
|
|
rs200619896 CA9194974 |
439 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1159968116 CA404003585 |
440 | D>G | No |
ClinGen gnomAD |
|
|
CA404003575 rs1371888686 |
440 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1458767032 CA404003608 |
441 | V>M | No |
ClinGen gnomAD |
|
|
CA9194978 rs560487582 |
444 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1403035643 CA404003706 |
445 | T>I | No |
ClinGen gnomAD |
|
|
CA404003696 rs1599451900 |
445 | T>P | No |
ClinGen Ensembl |
|
|
CA9194980 rs142235107 |
447 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1307093301 CA404003758 |
448 | L>P | No |
ClinGen gnomAD |
|
|
rs1319193486 CA404003811 |
451 | T>M | No |
ClinGen gnomAD |
|
|
rs201269444 CA9194981 |
452 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404003855 rs1481664925 |
453 | A>V | No |
ClinGen TOPMed |
|
|
CA9195000 rs756273712 |
459 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404005098 rs1276961545 |
460 | D>N | No |
ClinGen gnomAD |
|
|
rs1205478506 CA404005129 |
461 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9195002 rs749003107 |
463 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9195003 rs770670388 |
464 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA404005210 rs1403736915 |
465 | A>T | No |
ClinGen TOPMed |
|
|
rs1029706191 CA305223245 |
467 | L>F | No |
ClinGen TOPMed |
|
|
rs1192653867 CA404005329 |
470 | A>V | No |
ClinGen gnomAD |
|
|
CA404005367 rs1433066597 |
472 | I>M | No |
ClinGen Ensembl |
|
|
rs772002788 CA9195006 |
472 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs760292317 CA9195008 |
475 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs763634674 CA9195009 |
480 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs763634674 CA9195010 |
480 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA404005560 rs1427216970 |
481 | S>A | No |
ClinGen gnomAD |
|
|
CA9195011 rs202184347 |
482 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA404005620 rs1366668839 |
483 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1439201094 CA404005637 |
484 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 484 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305223309 rs974137221 |
487 | N>D | No |
ClinGen TOPMed |
|
|
rs974137221 CA404005688 |
487 | N>Y | No |
ClinGen TOPMed |
|
|
CA404005718 rs1289923795 |
488 | T>I | No |
ClinGen TOPMed |
|
|
CA404005721 rs1022986278 |
489 | N>D | No |
ClinGen gnomAD |
|
|
CA305223327 rs1022986278 |
489 | N>H | No |
ClinGen gnomAD |
|
|
CA404006003 CA404006006 rs1162071704 |
495 | M>L | No |
ClinGen gnomAD |
|
|
rs201460028 CA305223557 |
505 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA404006369 rs1269979804 |
508 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1437782243 CA404006380 |
509 | V>L | No |
ClinGen Ensembl |
|
|
CA404006420 rs1326784659 |
511 | F>L | No |
ClinGen gnomAD |
|
|
rs141379029 CA9195043 |
512 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404006483 rs1184710573 |
516 | E>K | No |
ClinGen gnomAD |
|
|
CA404006502 rs1209749077 |
517 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA305223563 rs59948612 |
518 | N>K | No |
ClinGen Ensembl |
|
|
rs780691006 CA404006563 |
519 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9195047 rs780691006 |
519 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9195046 rs115069853 |
519 | C>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs200647370 CA305223570 |
520 | D>E | No |
ClinGen Ensembl |
|
|
CA9195048 rs747715012 |
520 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201053451 CA305223571 |
521 | I>V | No |
ClinGen Ensembl |
|
|
CA404006632 rs1249575687 |
523 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs769545330 CA9195049 |
526 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA404006700 rs1457000307 |
526 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773035923 CA9195050 |
528 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1404544737 CA404006745 |
529 | Q>P | No |
ClinGen gnomAD |
|
|
CA9195052 rs772431261 |
530 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs146986676 CA9195051 |
530 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA305223581 rs72558024 |
532 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA305223585 rs951423867 |
534 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs761177326 CA9195054 |
536 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA404006865 rs1568383956 |
537 | V>L | No |
ClinGen Ensembl |
|
|
CA404006906 rs1484187267 |
539 | D>Y | No |
ClinGen TOPMed |
|
|
rs776679347 CA9195056 |
540 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA404006932 rs1346934832 |
540 | M>R | No |
ClinGen gnomAD |
|
|
rs1599456386 CA404007111 |
541 | V>G | No |
ClinGen Ensembl |
|
|
rs766581210 CA9195081 |
547 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201068733 CA9195080 |
547 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751343140 CA9195082 |
550 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 552 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322666631 CA404007455 |
555 | D>H | No |
ClinGen gnomAD |
|
|
CA404007463 rs1365733524 |
555 | D>V | No |
ClinGen gnomAD |
|
|
CA404007534 rs1230152478 |
558 | T>I | No |
ClinGen gnomAD |
|
|
rs1340812061 CA404007768 |
567 | S>T | No |
ClinGen gnomAD |
|
|
CA404007812 rs1244908668 |
568 | S>L | No |
ClinGen gnomAD |
|
|
CA404007871 rs1354860971 |
571 | L>V | No |
ClinGen gnomAD |
|
|
CA404007933 rs1466582510 |
573 | L>Q | No |
ClinGen gnomAD |
|
|
CA404007970 rs995064267 |
574 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA404008019 rs1247697967 |
575 | N>Y | No |
ClinGen gnomAD |
|
|
CA9195087 rs202016131 |
576 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201036218 CA305223831 |
576 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 578 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305223833 COSM213153 rs200220469 |
579 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs200669683 CA9195122 |
584 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9195125 rs199784523 |
586 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1172215769 CA404009416 |
586 | M>T | No |
ClinGen gnomAD |
|
|
rs1433602124 CA404009441 |
587 | V>M | No |
ClinGen gnomAD |
|
|
rs1177768792 CA404009463 |
588 | H>R | No |
ClinGen gnomAD |
|
|
COSM1293723 rs1357095845 CA404009512 COSM1293725 COSM1293724 |
590 | A>V | cervix central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1308116123 CA404009524 |
591 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1027897357 CA305225266 |
592 | L>F | No |
ClinGen Ensembl |
|
|
rs758029716 CA9195128 |
594 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1298142620 CA404009623 |
595 | P>A | No |
ClinGen gnomAD |
|
|
rs1298142620 CA404009625 |
595 | P>S | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404009645 rs1221315322 |
596 | T>P | No |
ClinGen gnomAD |
|
|
rs764515269 CA305225270 |
598 | P>L | No |
ClinGen gnomAD |
|
|
rs1331397953 CA404009728 |
600 | E>K | No |
ClinGen TOPMed |
|
|
rs1482155517 CA404009773 |
602 | Y>N | No |
ClinGen gnomAD |
|
|
rs756425710 COSM3692325 COSM3692323 COSM3692324 CA9195131 |
603 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9195132 rs778234698 |
603 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201168797 CA9195134 |
608 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404009930 rs1232910106 |
610 | M>T | No |
ClinGen gnomAD |
|
|
rs200082505 CA305225326 |
610 | M>V | No |
ClinGen Ensembl |
|
|
CA404009951 rs1157844702 |
612 | E>K | No |
ClinGen TOPMed |
|
|
CA305225334 rs1024549019 |
619 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs775904264 CA9195138 COSM990584 COSM990585 COSM1589657 |
621 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs775904264 CA404010108 |
621 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs373223236 CA9195139 |
621 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 622 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9195142 rs200585509 |
622 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200528436 CA9195143 |
623 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9195144 rs772589172 |
624 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA404010183 rs1436077924 |
625 | M>K | No |
ClinGen gnomAD |
|
|
rs936113659 CA305225352 |
626 | E>G | No |
ClinGen Ensembl |
|
|
CA404010341 rs1340115666 |
630 | M>I | No |
ClinGen gnomAD |
|
|
CA404010326 rs1300151585 |
630 | M>T | No |
ClinGen gnomAD |
|
|
rs1326003311 CA404010418 |
632 | D>G | No |
ClinGen TOPMed |
|
|
CA9195145 rs762485767 |
633 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 633 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765901065 CA9195146 |
634 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200887776 CA9195148 |
638 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9195149 rs576131346 |
639 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA305225379 rs201746419 |
639 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404010611 rs1199282953 |
641 | S>Y | No |
ClinGen gnomAD |
|
|
CA404012605 rs1249060531 |
650 | V>A | No |
ClinGen gnomAD |
|
|
rs111262987 CA305226785 |
654 | W>R | No |
ClinGen Ensembl |
|
|
rs200617126 CA9195190 |
658 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404012795 rs200617126 |
658 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751655561 CA9195191 |
658 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781150332 CA9195193 |
661 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1170361441 CA404012898 |
663 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 667 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9195194 COSM710207 rs200183982 |
667 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs777533742 CA9195196 |
671 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332670484 CA404013178 |
674 | D>E | No |
ClinGen gnomAD |
|
|
rs370281336 CA9195197 |
676 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 676 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9195199 rs778873223 |
682 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs199552753 CA404013384 |
684 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9195200 rs146370645 RCV000910819 |
684 | R>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA305226824 rs199552753 |
684 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs774866928 CA404013410 |
685 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA9195201 rs199892625 |
685 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9195203 rs760315108 |
689 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9195205 rs773704689 |
690 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 690 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568387399 CA404013461 |
691 | P>S | No |
ClinGen Ensembl |
|
|
CA9195207 rs139163380 |
692 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1163837248 CA404013604 |
696 | R>K | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs199807445 CA9195208 |
696 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759968656 CA9195209 |
697 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374651479 CA404013660 |
698 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374651479 CA9195210 |
698 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404013681 rs1365477851 |
699 | G>D | No |
ClinGen gnomAD |
|
|
rs752779837 CA9195211 |
700 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404013707 rs1467765880 |
700 | H>P | No |
ClinGen TOPMed |
|
|
CA404013697 rs752779837 |
700 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404013773 rs1325410572 |
701 | P>L | No |
ClinGen gnomAD |
|
|
CA404013783 rs1267802864 |
702 | P>H | No |
ClinGen gnomAD |
|
|
rs1267802864 CA404013792 |
702 | P>L | No |
ClinGen gnomAD |
|
|
CA9195213 rs778011430 |
703 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9195214 rs778011430 |
703 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756997532 CA9195215 |
706 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9195216 rs200879302 |
709 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9195217 rs745751697 |
710 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1261124519 CA404014045 |
711 | L>V | No |
ClinGen gnomAD |
|
|
rs535059972 CA9195218 |
712 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535059972 CA9195219 |
712 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404014106 rs1363985913 |
714 | E>G | No |
ClinGen TOPMed |
|
|
CA404014124 rs1474063929 |
715 | E>K | No |
ClinGen gnomAD |
|
|
rs1163962882 CA404014135 |
716 | E>Q | No |
ClinGen gnomAD |
|
|
rs1487556371 CA404014168 |
717 | E>A | No |
ClinGen Ensembl |
|
|
CA404014156 rs1272012471 |
717 | E>Q | No |
ClinGen TOPMed |
|
|
CA305226879 rs1010801586 |
719 | E>Q | No |
ClinGen Ensembl |
|
|
CA9195223 rs200501561 |
721 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568387610 CA404014277 |
722 | S>* | No |
ClinGen Ensembl |
|
|
rs747821305 CA9195224 |
723 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 725 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404014340 rs1599465710 |
726 | I>M | No |
ClinGen Ensembl |
|
|
rs138890315 CA305226894 |
726 | I>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs201587184 CA9195225 |
727 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289365076 CA404014361 |
728 | C>S | No |
ClinGen gnomAD |
|
|
CA404014386 rs1331747698 |
729 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 731 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000965430 rs62638759 CA9195228 |
732 | E>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1568387664 CA404014436 |
732 | E>K | No |
ClinGen Ensembl |
|
|
CA305226907 rs769314037 |
733 | A>S | No |
ClinGen Ensembl |
|
|
CA9195230 rs371677574 |
734 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9195231 VAR_059544 rs1051738 |
736 | A>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9195232 rs1051738 |
736 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1320279117 CA404014533 |
737 | Q>E | No |
ClinGen gnomAD |
|
|
CA404014587 rs1187216826 |
739 | L>F | No |
ClinGen gnomAD |
|
|
CA9195234 rs764952909 |
740 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758350210 CA9195236 |
743 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758350210 CA9195237 |
743 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9195238 rs746503980 |
745 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs780876253 CA9195240 |
746 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754484101 CA9195239 |
746 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199819673 CA305226965 CA9195241 |
747 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs747749678 CA9195243 |
749 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200744283 CA9195244 |
750 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404014894 rs1273581515 |
752 | W>L | No |
ClinGen TOPMed |
|
|
CA9195246 COSM241098 rs200818903 |
756 | P>A | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA9195247 rs145597767 |
756 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145597767 CA404015008 |
756 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404015017 rs1297981452 |
757 | A>T | No |
ClinGen TOPMed |
|
|
CA404015059 rs1227613032 |
757 | A>V | No |
ClinGen gnomAD |
|
|
CA404015072 rs1440413137 |
758 | Q>L | No |
ClinGen TOPMed |
|
|
rs1313008251 CA404015140 |
759 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs761201612 CA9195249 |
759 | E>K | No |
ClinGen ExAC |
|
|
CA9195251 COSM1153279 rs776703872 COSM990591 COSM990590 |
760 | S>L | lung endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs200834596 CA9195250 |
760 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs199869662 CA9195254 |
761 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758173820 CA9195255 |
768 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9195257 rs751497842 |
769 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9195256 rs766216170 |
769 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599466078 CA404015402 |
770 | L>Q | No |
ClinGen Ensembl |
|
|
rs1356826470 CA404015525 |
776 | A>S | No |
ClinGen gnomAD |
|
|
rs201221701 CA305227058 |
780 | T>I | No |
ClinGen gnomAD |
|
|
rs1368823457 CA404015600 |
781 | Q>R | No |
ClinGen gnomAD |
|
|
CA404015614 rs1210143925 |
782 | Q>R | No |
ClinGen TOPMed |
|
|
rs752327229 CA9195261 |
783 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1301586281 CA404015656 |
786 | T>A | No |
ClinGen gnomAD |
|
|
rs545392107 CA9195262 |
788 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777342589 CA9195263 |
790 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA305227069 rs199862263 |
790 | P>S | No |
ClinGen gnomAD |
|
|
rs1568387956 CA404015713 |
791 | V>M | No |
ClinGen Ensembl |
|
|
rs1236517213 CA404015746 |
792 | A>V | No |
ClinGen TOPMed |
|
|
rs201230564 CA9195264 |
793 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA305227090 rs147623532 |
794 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA305227091 rs982236021 |
795 | E>Q | No |
ClinGen Ensembl |
|
|
TCGA novel rs1488708446 CA404015809 |
796 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
CA305227092 rs200378345 |
797 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9195270 rs201380135 |
799 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9195269 rs201380135 |
799 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9195268 rs371781046 |
799 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA404015874 rs1170405519 |
800 | E>K | No |
ClinGen gnomAD |
|
|
rs770031766 CA9195271 |
801 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM287678 rs200409316 CA305227156 |
803 | V>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs560794825 CA9195274 |
804 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404015983 rs1402748251 |
804 | V>F | No |
ClinGen gnomAD |
|
|
CA404015972 rs1402748251 |
804 | V>I | No |
ClinGen gnomAD |
|
|
CA9195275 rs751460959 |
806 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs201593622 CA305227160 |
807 | S>N | No |
ClinGen Ensembl |
|
|
VAR_059545 rs2230190 CA305227165 |
808 | H>Y | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs759546248 CA9195276 |
809 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 811 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs567424183 CA9195277 |
813 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs975003505 CA305227168 |
813 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9195278 rs567424183 |
813 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042297542 CA305227179 |
818 | S>G | No |
ClinGen Ensembl |
|
|
rs1270812136 CA404016182 |
818 | S>I | No |
ClinGen gnomAD |
|
|
CA9195282 rs756948802 |
820 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1186394888 CA404016225 |
822 | P>A | No |
ClinGen gnomAD |
|
|
CA404016240 rs542894067 |
823 | A>D | No |
ClinGen 1000Genomes TOPMed |
|
|
rs542894067 CA305227208 |
823 | A>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1397099588 CA404016285 |
826 | T>P | No |
ClinGen TOPMed |
|
|
rs1397099588 CA404016291 |
826 | T>S | No |
ClinGen TOPMed |
|
|
rs200707536 CA9195286 |
828 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1394283274 CA404016376 |
830 | S>L | No |
ClinGen gnomAD |
|
|
CA9195287 rs748673397 |
831 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9195289 rs773341941 |
832 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs201534582 CA9195290 |
833 | A>D | No |
ClinGen 1000Genomes TOPMed |
|
|
CA404016431 rs1430138589 |
833 | A>T | No |
ClinGen gnomAD |
|
|
rs201534582 CA9195292 |
833 | A>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA9195294 rs763024239 |
834 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763024239 CA404016451 |
834 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9195296 rs774260751 |
836 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404016484 rs1291204046 |
836 | L>R | No |
ClinGen gnomAD |
|
|
CA9195297 rs759456652 |
837 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404016495 rs759456652 |
837 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404016496 rs1288843141 |
838 | G>S | No |
ClinGen gnomAD |
|
|
CA404016518 rs1285935007 |
839 | L>R | No |
ClinGen gnomAD |
|
|
CA404016519 rs1444737966 |
840 | P>S | No |
ClinGen gnomAD |
|
|
rs143733442 CA9195299 |
842 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143733442 CA9195298 |
842 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA305227271 rs201404545 |
843 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs201404545 CA9195300 |
843 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1482088832 CA404016622 |
845 | E>G | No |
ClinGen gnomAD |
|
|
rs756853948 CA9195303 |
845 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599466738 CA404016636 |
846 | V>G | No |
ClinGen Ensembl |
|
|
CA404016685 rs200838154 |
850 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404016688 rs1334947201 |
850 | R>L | No |
ClinGen gnomAD |
|
|
CA404016686 rs1334947201 |
850 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404016689 rs1326283041 |
851 | E>K | No |
ClinGen TOPMed |
|
|
CA305227284 rs532788597 |
852 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9195307 rs151033353 |
853 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9195308 rs748534753 |
854 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9195309 rs756654342 |
855 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1365517311 CA404016878 |
858 | A>G | No |
ClinGen TOPMed |
|
|
CA9195310 rs777713898 |
860 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 860 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404016914 rs1280859634 |
860 | S>R | No |
ClinGen gnomAD |
|
|
CA9195311 rs749428536 |
861 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404016940 rs1280417316 |
862 | C>F | No |
ClinGen gnomAD |
|
|
CA9195312 rs771040830 |
862 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9195314 rs200034640 |
863 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1257461659 CA404016960 |
863 | A>V | No |
ClinGen gnomAD |
|
|
rs1184438638 CA404016963 |
864 | G>R | No |
ClinGen gnomAD |
|
|
rs1026555833 CA305227333 |
865 | T>S | No |
ClinGen TOPMed |
|
|
rs775440589 CA9195316 |
866 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1011080700 CA305227337 |
867 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9195317 rs760518211 |
867 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA404017034 rs1171633916 |
869 | D>N | No |
ClinGen gnomAD |
|
|
CA305227340 rs200058068 |
870 | T>I | No |
ClinGen gnomAD |
|
|
rs201190584 CA305227349 |
872 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9195319 COSM3783165 rs201190584 COSM3783167 COSM3783166 |
872 | A>T | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1017908530 CA305227359 |
874 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1017908530 CA404017097 |
874 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9195320 rs761435041 |
875 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404017115 rs1355689814 |
876 | P>S | No |
ClinGen TOPMed |
|
|
CA404017129 rs1447363665 |
877 | G>V | No |
ClinGen Ensembl |
|
|
rs201664388 CA9195322 |
878 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA9195321 rs201664388 |
878 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs200139989 CA9195324 |
879 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231480859 CA404017154 |
880 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404017158 rs1231480859 |
880 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9195325 rs753160386 |
881 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 881 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140913905 CA9195327 |
882 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756550047 CA9195326 |
882 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140913905 CA9195328 |
882 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756550047 CA404017175 |
882 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404017190 rs1372642059 |
883 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 884 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9195331 rs746030260 |
885 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1452582601 CA404017224 |
886 | T>I | No |
ClinGen TOPMed gnomAD |
No associated diseases with P27815
6 regional properties for P27815
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Pancreatic trypsin inhibitor Kunitz domain | 47 - 101 | IPR002223-1 |
| domain | Pancreatic trypsin inhibitor Kunitz domain | 119 - 172 | IPR002223-2 |
| domain | Pancreatic trypsin inhibitor Kunitz domain | 223 - 276 | IPR002223-3 |
| conserved_site | Proteinase inhibitor I2, Kunitz, conserved site | 78 - 96 | IPR020901-1 |
| conserved_site | Proteinase inhibitor I2, Kunitz, conserved site | 149 - 167 | IPR020901-2 |
| conserved_site | Proteinase inhibitor I2, Kunitz, conserved site | 253 - 271 | IPR020901-3 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.4.53 | Phosphoric diester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11347 | CYCLIC NUCLEOTIDE PHOSPHODIESTERASE |
| PANTHER Subfamily | PTHR11347:SF74 | CAMP-SPECIFIC 3',5'-CYCLIC PHOSPHODIESTERASE 4A |
| PANTHER Protein Class | phosphodiesterase | |
| PANTHER Pathway Category | No pathway information available | |
8 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. |
| extrinsic component of membrane | The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3',5'-cyclic-AMP phosphodiesterase activity | Catalysis of the reaction: 3',5'-cyclic AMP + H2O = AMP + H+. |
| 3',5'-cyclic-nucleotide phosphodiesterase activity | Catalysis of the reaction: a nucleoside 3',5'-cyclic phosphate + H2O = a nucleoside 5'-phosphate. |
| cAMP binding | Binding to cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate). |
| metal ion binding | Binding to a metal ion. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cAMP catabolic process | The chemical reactions and pathways resulting in the breakdown of the nucleotide cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate). |
| cellular response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway | Any process that modulates the frequency, rate or extent of an adenylate cyclase-activating G protein-coupled receptor signaling pathway. |
| regulation of protein kinase A signaling | Any process that modulates the rate, frequency, or extent of protein kinase A signaling. PKA signaling is the series of reactions, mediated by the intracellular serine/threonine kinase protein kinase A, which occurs as a result of a single trigger reaction or compound. |
| sensory perception of smell | The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors. This is a neurological process. |
| 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. |
34 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q28156 | PDE5A | cGMP-specific 3',5'-cyclic phosphodiesterase | Bos taurus (Bovine) | SS |
| P23439 | PDE6B | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Bos taurus (Bovine) | PR |
| P52731 | PDE6C | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' | Gallus gallus (Chicken) | PR |
| H2QL32 | PDE9A | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Pan troglodytes (Chimpanzee) | PR |
| Q9VJ79 | Pde11 | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11 | Drosophila melanogaster (Fruit fly) | SS |
| Q9W4T4 | dnc | 3',5'-cyclic-AMP phosphodiesterase, isoform I | Drosophila melanogaster (Fruit fly) | SS |
| O60658 | PDE8A | High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A | Homo sapiens (Human) | PR |
| 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 |
| P54750 | PDE1A | Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A | 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 |
| P23440 | Pde6b | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Mus musculus (Mouse) | PR |
| O70628 | Pde9a | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Mus musculus (Mouse) | PR |
| Q8CG03 | Pde5a | cGMP-specific 3',5'-cyclic phosphodiesterase | Mus musculus (Mouse) | SS |
| Q8CA95 | Pde10a | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Mus musculus (Mouse) | PR |
| P0C1Q2 | Pde11a | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A | Mus musculus (Mouse) | SS |
| Q3UEI1 | Pde4c | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Mus musculus (Mouse) | PR |
| Q01063 | Pde4d | 3',5'-cyclic-AMP phosphodiesterase 4D | Mus musculus (Mouse) | SS |
| O89084 | Pde4a | 3',5'-cyclic-AMP phosphodiesterase 4A | Mus musculus (Mouse) | SS |
| Q8QZV1 | Pde9a | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Rattus norvegicus (Rat) | PR |
| P14646 | Pde4b | cAMP-specific 3',5'-cyclic phosphodiesterase 4B | Rattus norvegicus (Rat) | SS |
| Q8VID6 | Pde11a | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A | Rattus norvegicus (Rat) | SS |
| O54735 | Pde5a | cGMP-specific 3',5'-cyclic phosphodiesterase | Rattus norvegicus (Rat) | SS |
| P14644 | Pde4c | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Rattus norvegicus (Rat) | PR |
| Q9QYJ6 | Pde10a | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Rattus norvegicus (Rat) | PR |
| P14270 | Pde4d | cAMP-specific 3',5'-cyclic phosphodiesterase 4D | Rattus norvegicus (Rat) | PR |
| P54748 | Pde4a | 3',5'-cyclic-AMP phosphodiesterase 4A | Rattus norvegicus (Rat) | SS |
| Q22000 | pde-4 | Probable 3',5'-cyclic phosphodiesterase pde-4 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEPPTVPSER | SLSLSLPGPR | EGQATLKPPP | QHLWRQPRTP | IRIQQRGYSD | SAERAERERQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PHRPIERADA | MDTSDRPGLR | TTRMSWPSSF | HGTGTGSGGA | GGGSSRRFEA | ENGPTPSPGR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SPLDSQASPG | LVLHAGAATS | QRRESFLYRS | DSDYDMSPKT | MSRNSSVTSE | AHAEDLIVTP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FAQVLASLRS | VRSNFSLLTN | VPVPSNKRSP | LGGPTPVCKA | TLSEETCQQL | ARETLEELDW |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CLEQLETMQT | YRSVSEMASH | KFKRMLNREL | THLSEMSRSG | NQVSEYISTT | FLDKQNEVEI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PSPTMKEREK | QQAPRPRPSQ | PPPPPVPHLQ | PMSQITGLKK | LMHSNSLNNS | NIPRFGVKTD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QEELLAQELE | NLNKWGLNIF | CVSDYAGGRS | LTCIMYMIFQ | ERDLLKKFRI | PVDTMVTYML |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TLEDHYHADV | AYHNSLHAAD | VLQSTHVLLA | TPALDAVFTD | LEILAALFAA | AIHDVDHPGV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SNQFLINTNS | ELALMYNDES | VLENHHLAVG | FKLLQEDNCD | IFQNLSKRQR | QSLRKMVIDM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VLATDMSKHM | TLLADLKTMV | ETKKVTSSGV | LLLDNYSDRI | QVLRNMVHCA | DLSNPTKPLE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LYRQWTDRIM | AEFFQQGDRE | RERGMEISPM | CDKHTASVEK | SQVGFIDYIV | HPLWETWADL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VHPDAQEILD | TLEDNRDWYY | SAIRQSPSPP | PEEESRGPGH | PPLPDKFQFE | LTLEEEEEEE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ISMAQIPCTA | QEALTAQGLS | GVEEALDATI | AWEASPAQES | LEVMAQEASL | EAELEAVYLT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QQAQSTGSAP | VAPDEFSSRE | EFVVAVSHSS | PSALALQSPL | LPAWRTLSVS | EHAPGLPGLP |
| 850 | 860 | 870 | 880 | ||
| STAAEVEAQR | EHQAAKRACS | ACAGTFGEDT | SALPAPGGGG | SGGDPT |