Q96M20
PR
Gene name |
CNBD2 (C20orf152) |
Protein name |
Cyclic nucleotide-binding domain-containing protein 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:140894 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q96M20
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96M20-F1 | Predicted | AlphaFoldDB |
503 variants for Q96M20
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs889587036 CA408791116 |
2 | R>G | No |
ClinGen gnomAD |
|
|
CA408791117 rs1468763071 |
2 | R>K | No |
ClinGen TOPMed |
|
|
rs889587036 CA314202703 |
2 | R>W | No |
ClinGen gnomAD |
|
|
rs199581013 CA314202704 |
3 | R>K | No |
ClinGen gnomAD |
|
|
CA408791131 rs1463006476 |
4 | H>R | No |
ClinGen gnomAD |
|
|
rs780350079 CA9838890 |
5 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531349073 CA9838891 |
5 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9838892 rs531349073 |
5 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408791142 rs1184344164 |
6 | V>I | No |
ClinGen TOPMed |
|
|
rs1356695859 CA408791152 |
7 | T>S | No |
ClinGen gnomAD |
|
|
rs376975938 CA9838893 |
8 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1420420226 CA408791166 |
9 | A>V | No |
ClinGen gnomAD |
|
|
CA9838895 rs142034197 |
10 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370279613 CA9838896 |
12 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408791187 rs1408454129 |
12 | L>P | No |
ClinGen gnomAD |
|
|
rs1432314217 CA408791250 |
19 | L>P | No |
ClinGen TOPMed |
|
|
CA408791282 rs1285355068 |
21 | Q>H | No |
ClinGen gnomAD |
|
|
rs1420088490 CA408792256 |
23 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs756588502 CA408792291 |
24 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756588502 CA9838913 |
24 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs895137860 CA314203902 |
26 | I>N | No |
ClinGen TOPMed |
|
|
rs895137860 CA408792364 |
26 | I>T | No |
ClinGen TOPMed |
|
|
rs1010849994 CA314203906 |
27 | I>N | No |
ClinGen TOPMed |
|
|
CA9838914 rs778435101 |
30 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs138466031 COSM1026319 CA9838916 |
31 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs775259968 CA408792464 |
31 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775259968 CA9838917 |
31 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs966583749 CA314203925 |
32 | V>M | No |
ClinGen TOPMed |
|
|
CA314203928 rs999318477 |
33 | C>Y | No |
ClinGen TOPMed |
|
|
CA314203933 rs569010327 |
34 | K>E | No |
ClinGen 1000Genomes |
|
|
rs746716360 CA9838918 |
35 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1385390998 CA408792546 |
35 | M>L | No |
ClinGen gnomAD |
|
|
rs1385390998 CA408792542 |
35 | M>V | No |
ClinGen gnomAD |
|
|
rs539557197 CA9838919 |
37 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs17347958 CA9838920 VAR_056853 |
37 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1601015459 CA408792611 |
38 | Q>* | No |
ClinGen Ensembl |
|
|
rs190908620 CA408792642 |
39 | G>A | No |
ClinGen 1000Genomes ExAC |
|
|
CA408792637 rs1202741072 |
39 | G>S | No |
ClinGen gnomAD |
|
|
CA9838922 rs190908620 |
39 | G>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs1287106771 CA408792669 |
40 | L>P | No |
ClinGen gnomAD |
|
|
CA408792692 rs766506994 |
41 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356279893 CA408792708 |
42 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9838927 rs751780606 |
42 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA408792735 rs1220639656 |
43 | F>S | No |
ClinGen gnomAD |
|
|
CA9838929 rs540383548 |
44 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM2759390 rs150690141 CA9838928 |
44 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 47 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408792835 rs1204773905 |
47 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM352962 CA314203950 rs1051829255 |
54 | W>C | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA9838930 rs753021123 |
54 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs756600560 CA9838931 |
56 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA408793061 rs1364249616 |
57 | P>H | No |
ClinGen gnomAD |
|
|
CA314203953 rs890489047 |
58 | I>V | No |
ClinGen gnomAD |
|
|
rs778109576 CA408793093 |
59 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs778109576 CA9838932 |
59 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs745392096 CA314203966 |
62 | W>* | No |
ClinGen Ensembl |
|
|
CA408793159 rs1424867953 |
63 | D>Y | No |
ClinGen gnomAD |
|
|
rs754558131 CA9838955 |
65 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs780688317 CA9838956 |
67 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9838957 rs747895668 |
68 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs532379676 CA314205311 |
69 | R>* | No |
ClinGen 1000Genomes gnomAD |
|
|
rs138922540 CA9838958 |
69 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138922540 CA9838959 COSM1411479 |
69 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs749170763 CA9838960 |
70 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA408793672 rs1568860391 |
72 | F>C | No |
ClinGen Ensembl |
|
|
rs774370127 CA9838963 |
73 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA408793687 rs1354201170 |
74 | T>I | No |
ClinGen TOPMed |
|
|
rs1568860438 CA408793692 |
75 | M>T | No |
ClinGen Ensembl |
|
|
rs993534222 CA314205333 |
76 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA408793697 rs1461715009 |
76 | D>N | No |
ClinGen gnomAD |
|
|
CA9838964 rs759500319 |
77 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs148293467 CA314205338 |
77 | F>I | No |
ClinGen 1000Genomes |
|
|
CA314205345 rs1047759115 |
79 | A>V | No |
ClinGen TOPMed |
|
|
CA9838965 rs772241180 |
81 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1427988427 CA408793730 |
81 | E>K | No |
ClinGen gnomAD |
|
|
CA408794014 rs1212371042 |
82 | G>V | No |
ClinGen TOPMed |
|
|
CA9838985 rs201270907 |
83 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs962349023 CA314207398 |
84 | F>L | No |
ClinGen Ensembl |
|
|
rs777034324 CA9838986 |
87 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA314207405 rs200610110 |
88 | A>T | No |
ClinGen 1000Genomes |
|
|
CA9838987 rs149351198 |
89 | I>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA408794054 rs1304864452 |
89 | I>V | No |
ClinGen gnomAD |
|
|
rs765756199 CA9838988 |
91 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9838989 rs773590610 |
92 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA314207414 rs920852999 |
93 | Q>H | No |
ClinGen Ensembl |
|
|
rs184047696 CA9838991 |
96 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9838992 rs184047696 |
96 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408794113 rs1440115093 |
97 | S>F | No |
ClinGen TOPMed |
|
|
rs375425651 CA9838993 |
98 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs926773026 CA408794132 |
100 | T>K | No |
ClinGen TOPMed |
|
|
CA314207426 rs926773026 |
100 | T>R | No |
ClinGen TOPMed |
|
| TCGA novel | 101 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763701358 CA9838994 |
101 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199803303 CA9838996 |
104 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA314207464 rs866673102 |
105 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1383827792 CA408794198 |
106 | A>D | No |
ClinGen gnomAD |
|
|
CA9838998 rs745724867 |
107 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 108 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184586884 CA408794229 |
108 | C>Y | No |
ClinGen TOPMed |
|
|
CA314207488 rs1057274486 |
113 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9839002 rs567218290 |
117 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9839004 rs748451351 |
118 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201812279 CA9839003 |
118 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372174146 CA9839007 |
121 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372174146 CA9839006 |
121 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA314207540 rs1041373974 |
122 | E>K | No |
ClinGen Ensembl |
|
|
rs1005755918 CA314207570 |
125 | Q>K | No |
ClinGen TOPMed |
|
|
CA9839011 rs760152903 |
125 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458586977 CA408794539 |
127 | L>I | No |
ClinGen gnomAD |
|
|
rs1446878834 CA408794574 |
129 | A>D | No |
ClinGen gnomAD |
|
|
rs1241674824 CA408794565 |
129 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9839013 rs753482415 |
131 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA9839014 rs146293825 |
133 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA314207595 rs146293825 |
133 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373113225 CA9839015 |
133 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373113225 CA9839016 |
133 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146293825 CA408794639 |
133 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408794658 rs1172564083 |
134 | F>S | No |
ClinGen gnomAD |
|
|
CA408794682 rs1447388498 |
135 | E>D | No |
ClinGen gnomAD |
|
|
CA408794679 rs1355239942 |
135 | E>G | No |
ClinGen gnomAD |
|
|
rs202241014 CA9839018 |
136 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9839017 rs148029405 |
136 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200885142 COSM1026322 CA9839036 |
139 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9839037 rs138045142 |
139 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA314208658 rs138045142 |
139 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9839038 rs781376580 |
140 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs752859126 CA9839039 |
140 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149497436 CA9839040 |
141 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9839041 rs144274307 |
141 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1050819592 CA314208671 |
143 | I>V | No |
ClinGen TOPMed |
|
|
CA408795233 rs1478950229 |
144 | I>L | No |
ClinGen gnomAD |
|
|
CA314208678 rs1037851238 |
144 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 145 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839043 rs771319424 |
145 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9839045 rs746314671 |
150 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs779252038 CA9839044 |
150 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9839046 rs146007573 |
152 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1403980837 CA408795297 |
153 | F>V | No |
ClinGen gnomAD |
|
|
rs1279548178 CA408795323 |
156 | I>M | No |
ClinGen gnomAD |
|
|
rs148663118 CA9839049 |
156 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9839048 rs747673090 |
156 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs772914329 CA408795331 |
157 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408795371 rs1287217993 |
164 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA408795373 rs1287217993 |
164 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1490240794 CA408795381 |
165 | K>N | No |
ClinGen gnomAD |
|
|
rs762518989 CA9839051 |
166 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9839053 rs199888078 |
167 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839054 rs142242880 |
168 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151225093 CA9839055 |
169 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9839056 rs752734432 |
170 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350605140 CA408795416 |
171 | S>G | No |
ClinGen TOPMed |
|
|
CA408795445 rs375801238 |
175 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375801238 CA9839058 |
175 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1392246412 CA408795461 |
177 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9839060 rs551779036 |
178 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551779036 CA9839059 |
178 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160389744 CA408795465 |
178 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1160389744 CA408795463 |
178 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1334455252 CA408795469 |
179 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA408795491 rs1241869960 |
182 | H>R | No |
ClinGen gnomAD |
|
|
rs746263424 CA9839063 |
184 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9839064 rs758811912 |
185 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs780525738 CA9839065 |
186 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs747535317 CA9839066 |
188 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1024369661 CA314208911 |
190 | M>V | No |
ClinGen TOPMed |
|
|
CA314208915 rs971399461 |
191 | D>Y | No |
ClinGen TOPMed |
|
|
rs760536694 CA9839077 COSM1026324 |
192 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA408795589 rs1181484063 |
195 | A>T | No |
ClinGen gnomAD |
|
|
rs757462381 CA9839080 |
195 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1168233056 CA408795598 |
197 | V>M | No |
ClinGen TOPMed |
|
|
CA408795616 rs1409166538 |
199 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 203 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1026325 CA9839082 rs750702259 |
203 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs957346583 CA408795652 |
205 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs957346583 CA314208943 |
205 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA314208941 rs866860397 |
205 | M>V | No |
ClinGen Ensembl |
|
|
rs1326546873 CA408795662 |
206 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs867128703 CA314208948 |
206 | E>K | No |
ClinGen Ensembl |
|
|
rs1267705414 CA408795666 |
207 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs758756805 CA9839083 |
207 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA9839084 VAR_056854 rs6142471 |
208 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs138969375 CA9839085 |
208 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408795683 rs1601038311 |
210 | F>I | No |
ClinGen Ensembl |
|
|
rs1304941089 CA408795694 |
211 | L>P | No |
ClinGen gnomAD |
|
|
rs191053821 CA9839088 |
214 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs12185800 CA314208963 |
214 | D>Y | No |
ClinGen Ensembl |
|
|
CA9839090 rs770610448 |
215 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147553424 CA9839089 |
215 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778699165 CA9839091 |
216 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs778699165 CA408795717 |
216 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9839092 rs778699165 |
216 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 218 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1321736450 CA408795740 |
219 | F>L | No |
ClinGen TOPMed |
|
|
CA408795745 rs1322669885 |
219 | F>L | No |
ClinGen gnomAD |
|
|
rs1201734990 CA408795762 |
222 | K>E | No |
ClinGen gnomAD |
|
|
CA314208978 rs912341850 |
223 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 224 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942436521 CA314208980 |
225 | Q>R | No |
ClinGen TOPMed |
|
|
CA314208984 rs267605911 |
226 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs771929021 CA9839093 |
227 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA408795802 rs1259143904 |
228 | Q>* | No |
ClinGen gnomAD |
|
|
CA9839094 rs201296527 |
228 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359637758 CA408795825 |
231 | A>S | No |
ClinGen TOPMed |
|
|
rs1178382662 CA408795828 |
231 | A>V | No |
ClinGen TOPMed |
|
|
rs867287380 CA314208995 |
234 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9839096 rs534729039 |
234 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1178958692 CA408795852 |
235 | F>S | No |
ClinGen gnomAD |
|
|
CA408795865 rs1360100385 |
237 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 238 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776671841 CA9839097 |
239 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9839115 rs779860102 |
241 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs746750400 CA9839116 |
242 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150152777 CA9839117 |
244 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9839118 rs776428721 |
249 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1197914933 CA408795965 |
249 | D>G | No |
ClinGen gnomAD |
|
|
rs1237006123 CA408795962 |
249 | D>Y | No |
ClinGen TOPMed |
|
|
rs1016939802 CA314209899 |
254 | Q>P | No |
ClinGen TOPMed |
|
|
rs769805799 CA9839120 |
258 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs773300864 CA9839121 |
259 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 260 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766476919 CA9839124 |
261 | I>R | No |
ClinGen ExAC TOPMed |
|
|
rs766476919 CA314209928 |
261 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA408796053 rs1440000861 |
262 | E>D | No |
ClinGen Ensembl |
|
|
rs142929392 CA9839125 |
262 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9839126 rs142929392 |
262 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 264 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839128 rs767996674 |
265 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 265 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839127 rs767996674 |
265 | S>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 268 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839132 rs149193830 |
271 | S>* | No |
ClinGen ESP TOPMed |
|
|
CA9839134 rs758024036 |
272 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA408796123 rs1164399564 |
273 | D>G | No |
ClinGen gnomAD |
|
|
rs779551600 CA9839135 |
273 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1407312442 CA408796128 |
274 | F>V | No |
ClinGen gnomAD |
|
|
rs1165541806 CA408796158 |
278 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA408796159 rs1165541806 |
278 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408796171 rs1461419523 |
280 | I>F | No |
ClinGen gnomAD |
|
|
CA9839137 rs754661355 |
283 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA314209956 rs202169793 |
283 | I>V | No |
ClinGen Ensembl |
|
|
CA9839138 rs370212407 |
284 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748027415 CA9839139 |
285 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839158 rs755949511 |
288 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408796243 rs1319180537 |
288 | C>Y | No |
ClinGen gnomAD |
|
|
CA9839159 rs777670434 |
289 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9839160 rs34274439 |
291 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148382292 CA9839163 |
292 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148382292 CA9839164 |
292 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9839162 rs770852838 |
292 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839165 rs775896271 |
293 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839168 rs775896271 |
293 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs77274273 CA9839170 |
294 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs777273640 CA9839171 |
295 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408796280 rs1601057023 |
295 | D>G | No |
ClinGen Ensembl |
|
|
CA408796292 rs1326049128 |
297 | G>E | No |
ClinGen TOPMed |
|
|
rs762395007 CA9839172 |
298 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs368113427 CA314213059 |
300 | P>A | No |
ClinGen Ensembl |
|
|
CA408796314 rs1273304640 |
301 | S>Y | No |
ClinGen TOPMed |
|
|
rs145655560 CA9839174 |
303 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202204216 CA9839175 |
303 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145655560 CA408796325 |
303 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1344188460 CA408796330 |
304 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9839176 rs530095617 |
305 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839177 rs201366821 |
307 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781366469 CA9839178 |
309 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781366469 CA408796370 |
309 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408796381 rs1273530631 |
311 | E>* | No |
ClinGen gnomAD |
|
|
CA9839180 rs753664451 |
311 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1284035467 CA408796396 |
313 | I>M | No |
ClinGen gnomAD |
|
|
CA9839181 rs372905829 |
313 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9839183 rs745948902 |
314 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745948902 CA9839182 |
314 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408796397 rs1487418367 |
314 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 315 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839186 rs747302894 |
317 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1365077955 CA408796416 |
317 | P>T | No |
ClinGen TOPMed |
|
|
rs568684010 CA9839188 |
319 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 319 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839189 rs762185436 |
320 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762185436 CA408796436 |
320 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839191 rs773637797 |
322 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs367578003 CA9839192 |
322 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9839194 rs200301277 |
323 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750308241 CA9839219 |
325 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408785798 rs1267295371 |
326 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 326 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369311733 CA9839220 |
328 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9839222 rs552105889 |
331 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408785925 rs552105889 |
331 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755157274 CA9839223 |
333 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1200250178 CA408786025 |
335 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9839225 rs570577961 |
338 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1422853049 CA408786116 |
339 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA408786173 rs1185051733 |
341 | L>R | No |
ClinGen gnomAD |
|
|
CA408786183 rs1369683349 |
342 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1472808990 CA408786277 |
346 | S>T | No |
ClinGen gnomAD |
|
|
CA9839226 rs748383530 |
349 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs200680722 CA408786366 |
351 | H>Q | No |
ClinGen gnomAD |
|
|
rs1023114031 CA314191020 |
356 | W>R | No |
ClinGen TOPMed |
|
|
rs778010266 CA408786466 |
357 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839229 rs778010266 |
357 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556064819 CA314191028 |
358 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs920496684 CA314191037 |
359 | Q>* | No |
ClinGen Ensembl |
|
|
rs749750847 CA9839230 |
359 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs771463451 CA9839231 |
360 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 362 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408786525 rs1341303823 |
362 | S>R | No |
ClinGen gnomAD |
|
|
CA314191049 rs374105237 |
364 | S>R | No |
ClinGen ESP TOPMed |
|
|
rs1276410711 CA408786619 |
366 | K>N | No |
ClinGen gnomAD |
|
|
CA408786612 rs1218050680 |
366 | K>R | No |
ClinGen gnomAD |
|
|
CA9839234 rs768109934 |
374 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA9839233 rs534620081 |
374 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408786719 rs1201537623 |
375 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
VAR_056855 CA9839235 rs6060750 |
375 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs761376465 CA9839236 |
377 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA9839237 rs765026154 |
380 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314191082 rs1044690020 |
380 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1448708178 CA408786806 |
383 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9839252 rs768145949 |
387 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA314193318 rs1007599308 |
387 | A>S | No |
ClinGen Ensembl |
|
|
CA9839253 rs139736995 |
388 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408786952 rs569045490 |
389 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839254 rs569045490 |
389 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211357422 CA408786959 |
390 | I>V | No |
ClinGen TOPMed |
|
|
rs149299145 CA9839255 |
392 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9839256 rs149299145 |
392 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA314193377 rs766340110 |
394 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766340110 CA9839258 |
394 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762828279 CA9839257 |
394 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774360516 CA9839259 |
395 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839260 rs759556767 |
395 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA408787089 rs1303123999 |
399 | P>S | No |
ClinGen gnomAD |
|
|
CA408787116 rs1276930389 |
401 | E>K | No |
ClinGen gnomAD |
|
|
CA408787182 rs1283355456 |
404 | K>R | No |
ClinGen gnomAD |
|
|
rs1355445193 CA408787231 |
407 | A>T | No |
ClinGen gnomAD |
|
|
CA9839264 rs144534589 |
408 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345045801 CA408787250 |
408 | V>L | No |
ClinGen TOPMed |
|
|
CA408787265 rs1392593165 |
409 | G>R | No |
ClinGen TOPMed |
|
|
rs754120680 CA9839265 |
410 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs779254104 CA9839267 |
412 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9839269 rs748144738 |
413 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839270 rs375905011 |
413 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9839272 rs185219770 |
414 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748948439 CA9839274 |
415 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1247166487 CA408787401 |
417 | V>M | No |
ClinGen TOPMed |
|
|
CA9839276 rs774307554 |
418 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445717216 CA408787422 |
418 | E>G | No |
ClinGen gnomAD |
|
|
rs1378628338 CA408787442 |
419 | Q>L | No |
ClinGen gnomAD |
|
|
rs1048699890 CA314193494 |
420 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1568915859 CA408787469 |
421 | E>* | No |
ClinGen Ensembl |
|
|
rs1311384366 CA408787472 |
421 | E>A | No |
ClinGen gnomAD |
|
|
COSM1026329 CA408787482 rs1319465902 |
421 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1198870032 CA408787504 |
422 | I>M | No |
ClinGen TOPMed |
|
|
CA408787503 rs1223150909 |
422 | I>T | No |
ClinGen gnomAD |
|
|
rs1319470404 CA408787514 |
423 | L>S | No |
ClinGen TOPMed |
|
|
CA408789176 rs1235904531 |
425 | L>F | No |
ClinGen gnomAD |
|
|
CA9839289 rs780412384 |
426 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9839291 rs752175179 |
427 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408789193 rs1477452554 |
427 | Q>H | No |
ClinGen gnomAD |
|
|
CA9839290 rs752175179 |
427 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839292 rs559746385 |
427 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9839294 rs770735269 |
428 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408789196 rs770735269 |
428 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839293 rs148485934 |
428 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9839295 rs770735269 |
428 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410262216 CA408789199 |
429 | F>V | No |
ClinGen gnomAD |
|
|
CA9839296 rs200650618 |
431 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9839298 rs775288744 |
433 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1235949705 CA408789224 |
433 | G>S | No |
ClinGen TOPMed |
|
|
rs375428697 CA9839299 |
435 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748255965 CA9839301 |
436 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9839303 rs772337776 |
438 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA408789257 rs772337776 |
438 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA314200375 rs773539864 |
438 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773539864 CA9839304 |
438 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408789259 rs1348542588 |
439 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9839305 rs145288341 |
441 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9839307 rs751949780 CA408789288 |
443 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs147570074 CA9839306 |
443 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408789297 rs1282066188 |
444 | S>R | No |
ClinGen TOPMed |
|
|
rs763654737 CA9839309 |
447 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195943774 CA408789318 |
448 | E>* | No |
ClinGen gnomAD |
|
|
rs1007264673 CA314200411 |
448 | E>V | No |
ClinGen Ensembl |
|
|
rs140294360 CA314200414 |
449 | L>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1568931644 CA408789331 |
450 | I>K | No |
ClinGen Ensembl |
|
|
CA9839311 rs144157412 |
450 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408789337 rs1173806328 |
451 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408789338 rs1173806328 |
451 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9839313 rs151169935 |
451 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9839314 rs745604728 |
453 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1417276320 CA408789357 |
454 | K>R | No |
ClinGen gnomAD |
|
|
CA9839315 rs758063347 |
455 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445508730 CA408789368 |
456 | I>V | No |
ClinGen TOPMed |
|
|
rs1436442355 CA408789374 |
457 | F>I | No |
ClinGen gnomAD |
|
|
CA9839316 rs779913102 |
458 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA9839317 rs746873286 |
461 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 462 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839318 rs768613367 |
463 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA408789435 rs1285501439 |
465 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 466 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140164976 CA9839320 |
466 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9839322 rs773240516 |
467 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA9839321 rs769928308 |
467 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs763246078 CA9839323 |
468 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 470 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs984632496 CA314200459 |
473 | K>N | No |
ClinGen Ensembl |
|
|
CA9839326 rs760016779 |
474 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 475 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs552811368 CA9839327 |
475 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753316398 CA408789532 |
479 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs753316398 CA9839328 |
479 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA408789533 rs753316398 |
479 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA408789534 rs1385134680 |
480 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9839352 rs751279150 |
484 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA408790157 rs1257178627 |
484 | M>T | No |
ClinGen gnomAD |
|
|
CA408790226 rs1250745154 |
489 | L>F | No |
ClinGen gnomAD |
|
|
rs1441512426 CA408790246 |
490 | Q>R | No |
ClinGen gnomAD |
|
|
rs754701377 CA9839353 |
493 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1568939472 CA408790312 |
494 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9839354 rs780977953 |
495 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1475820423 CA408790336 |
496 | I>V | No |
ClinGen gnomAD |
|
|
CA9839357 rs777609453 |
498 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181950038 CA9839356 |
498 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408790403 rs575842816 |
500 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA408790397 rs1168873414 |
500 | D>G | No |
ClinGen gnomAD |
|
|
rs1230414100 CA408790388 |
500 | D>N | No |
ClinGen TOPMed |
|
|
CA9839360 rs779194392 |
503 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1399493482 CA408790456 |
505 | L>F | No |
ClinGen gnomAD |
|
|
CA408790461 rs1277411330 |
505 | L>P | No |
ClinGen gnomAD |
|
|
CA314203473 rs976038231 |
506 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs772511844 CA408790495 |
508 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950000747 CA314203485 |
508 | P>R | No |
ClinGen TOPMed |
|
|
CA9839362 rs772511844 |
508 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198442721 CA408790516 |
509 | C>* | No |
ClinGen gnomAD |
|
|
CA9839363 rs776019136 |
510 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA408790555 rs1601117807 |
512 | Q>* | No |
ClinGen Ensembl |
|
|
rs1485672373 CA408790559 |
512 | Q>R | No |
ClinGen gnomAD |
|
|
rs1044276485 CA314203502 |
516 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs112300896 CA9839365 |
518 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839364 rs761225332 |
518 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408790650 rs1601117885 |
519 | P>L | No |
ClinGen Ensembl |
|
|
CA408790645 rs1377487057 |
519 | P>T | No |
ClinGen gnomAD |
|
|
CA314203524 rs113950091 |
520 | K>N | No |
ClinGen Ensembl |
|
|
rs1464720629 CA408790688 |
522 | R>T | No |
ClinGen gnomAD |
|
|
rs777056035 CA408790713 |
524 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs762517906 CA9839368 |
524 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777056035 CA9839367 |
524 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs999958587 CA314203531 |
525 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA408790746 rs1383896803 |
526 | N>K | No |
ClinGen gnomAD |
|
|
CA408790743 rs1359760673 |
526 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 527 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA314203535 rs984526963 |
527 | P>T | No |
ClinGen Ensembl |
|
|
rs765810091 CA9839369 |
528 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs373181535 CA9839370 |
529 | S>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA408790770 rs1330364144 |
529 | S>T | No |
ClinGen gnomAD |
|
|
CA314203547 rs908971587 |
531 | V>I | No |
ClinGen Ensembl |
|
|
CA9839372 rs200247317 |
534 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9839373 rs752453879 |
535 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1283308791 CA408790839 |
536 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 536 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839374 rs755907728 |
539 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571562114 CA9839375 |
540 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757298997 COSM1026333 CA9839377 |
544 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs201193759 CA9839378 |
544 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408790901 rs1347132208 |
545 | Y>C | No |
ClinGen TOPMed |
|
|
rs1347132208 CA408790902 |
545 | Y>F | No |
ClinGen TOPMed |
|
|
rs772455312 CA9839380 |
547 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408790930 rs1238492921 |
549 | M>I | No |
ClinGen TOPMed |
|
|
rs747357966 CA9839382 |
549 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs747357966 CA408790926 |
549 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA314203581 rs768966320 |
551 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839384 rs768966320 |
551 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839385 rs777128631 |
552 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA408790962 rs1472238240 |
554 | Y>C | No |
ClinGen gnomAD |
|
|
CA408790961 rs1472238240 |
554 | Y>S | No |
ClinGen gnomAD |
|
|
CA408790973 rs1568940218 |
556 | P>T | No |
ClinGen Ensembl |
|
|
CA9839388 rs372470547 |
557 | P>A | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
| TCGA novel | 557 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408790981 rs1371235794 |
557 | P>L | No |
ClinGen gnomAD |
|
|
rs1371235794 CA408790979 |
557 | P>Q | No |
ClinGen gnomAD |
|
|
CA9839387 rs372470547 |
557 | P>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
| TCGA novel | 558 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 558 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9839389 rs759083843 |
560 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA408791012 rs1375254871 |
562 | Q>R | No |
ClinGen TOPMed |
|
|
rs375790455 CA9839391 |
564 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9839392 rs760517075 |
565 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760517075 CA408791028 |
565 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265331694 CA408791032 |
565 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408791038 rs537703421 |
566 | A>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA9839393 rs111829920 |
566 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314203624 rs537703421 |
566 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA408791039 rs1469215897 |
567 | P>T | No |
ClinGen TOPMed |
|
|
CA9839395 rs199880459 |
568 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839394 rs373220798 COSM1411481 |
568 | R>W | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9839397 rs750499821 |
572 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9839398 rs758601858 |
572 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314203637 rs983450899 |
574 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1327662666 CA408791092 |
575 | L>F | No |
ClinGen gnomAD |
|
|
CA9839400 rs145803772 |
576 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q96M20
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| cAMP binding | Binding to cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate). |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
22 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P00514 | PRKAR1A | cAMP-dependent protein kinase type I-alpha regulatory subunit | Bos taurus (Bovine) | EV |
| P00515 | PRKAR2A | cAMP-dependent protein kinase type II-alpha regulatory subunit | Bos taurus (Bovine) | EV |
| P31322 | PRKAR2B | cAMP-dependent protein kinase type II-beta regulatory subunit | Bos taurus (Bovine) | EV |
| Q5ZM91 | PRKAR1A | cAMP-dependent protein kinase type I-alpha regulatory subunit | Gallus gallus (Chicken) | SS |
| P81900 | Pka-R2 | cAMP-dependent protein kinase type II regulatory subunit | Drosophila melanogaster (Fruit fly) | PR |
| P16905 | Pka-R1 | cAMP-dependent protein kinase type I regulatory subunit | Drosophila melanogaster (Fruit fly) | PR |
| P13861 | PRKAR2A | cAMP-dependent protein kinase type II-alpha regulatory subunit | Homo sapiens (Human) | PR |
| P31323 | PRKAR2B | cAMP-dependent protein kinase type II-beta regulatory subunit | Homo sapiens (Human) | PR |
| P10644 | PRKAR1A | cAMP-dependent protein kinase type I-alpha regulatory subunit | Homo sapiens (Human) | EV |
| P31321 | PRKAR1B | cAMP-dependent protein kinase type I-beta regulatory subunit | Homo sapiens (Human) | EV |
| P12849 | Prkar1b | cAMP-dependent protein kinase type I-beta regulatory subunit | Mus musculus (Mouse) | PR |
| P12367 | Prkar2a | cAMP-dependent protein kinase type II-alpha regulatory subunit | Mus musculus (Mouse) | PR |
| P31324 | Prkar2b | cAMP-dependent protein kinase type II-beta regulatory subunit | Mus musculus (Mouse) | PR |
| Q9DBC7 | Prkar1a | cAMP-dependent protein kinase type I-alpha regulatory subunit [Cleaved into: cAMP-dependent protein kinase type I-alpha regulatory subunit, N-terminally processed] | Mus musculus (Mouse) | SS |
| Q9D5U8 | Cnbd2 | Cyclic nucleotide-binding domain-containing protein 2 | Mus musculus (Mouse) | PR |
| P05207 | PRKAR2A | cAMP-dependent protein kinase type II-alpha regulatory subunit | Sus scrofa (Pig) | SS |
| P07802 | PRKAR1A | cAMP-dependent protein kinase type I-alpha regulatory subunit | Sus scrofa (Pig) | SS |
| P12369 | Prkar2b | cAMP-dependent protein kinase type II-beta regulatory subunit | Rattus norvegicus (Rat) | PR |
| P12368 | Prkar2a | cAMP-dependent protein kinase type II-alpha regulatory subunit | Rattus norvegicus (Rat) | PR |
| P81377 | Prkar1b | cAMP-dependent protein kinase type I-beta regulatory subunit | Rattus norvegicus (Rat) | PR |
| P09456 | Prkar1a | cAMP-dependent protein kinase type I-alpha regulatory subunit | Rattus norvegicus (Rat) | SS |
| P30625 | kin-2 | cAMP-dependent protein kinase regulatory subunit | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRRHMVTYAW | QLLKKELGLY | QLAMDIIIMI | RVCKMFRQGL | RGFREYQIIE | TAHWKHPIFS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FWDKKMQSRV | TFDTMDFIAE | EGHFPPKAIQ | IMQKKPSWRT | EDEIQAVCNI | LQVLDSYRNY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AEPLQLLLAK | VMRFERFGRR | RVIIKKGQKG | NSFYFIYLGT | VAITKDEDGS | SAFLDPHPKL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LHKGSCFGEM | DVLHASVRRS | TIVCMEETEF | LVVDREDFFA | NKLDQEVQKD | AQYRFEFFRK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MELFASWSDE | KLWQLVAMAK | IERFSYGQLI | SKDFGESPFI | MFISKGSCEV | LRLLDLGASP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SYRRWIWQHL | ELIDGRPLKT | HLSEYSPMER | FKEFQIKSYP | LQDFSSLKLP | HLKKAWGLQG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TSFSRKIRTS | GDTLPKMLGP | KIQSRPAQSI | KCAMINIKPG | ELPKEAAVGA | YVKVHTVEQG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EILGLHQAFL | PEGECDTRPL | ILMSLGNELI | RIRKEIFYEL | IDNDDEMIKK | LLKLNIAFPS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DEDMCQKFLQ | QNSWNIFRKD | LLQLLVEPCQ | SQLFTPNRPK | KREIYNPKSV | VLDLCSINKT |
| 550 | 560 | 570 | |||
| TKPRYPIFMA | PQKYLPPLRI | VQAIKAPRYK | IRELLA |