Q96P56
PR
Gene name |
CATSPER2 |
Protein name |
Cation channel sperm-associated protein 2 |
Names |
CatSper2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:117155 |
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 Q96P56
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96P56-F1 | Predicted | AlphaFoldDB |
470 variants for Q96P56
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000480645 CA7528754 RCV001327948 rs146701338 |
307 | W>S | Infertility [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7529094 rs752069856 |
2 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs146757686 CA7529091 |
3 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146757686 CA7529090 |
3 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7529092 rs146757686 |
3 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142044666 CA7529088 |
6 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7529087 rs142044666 |
6 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_033307 CA7529085 rs2614835 |
8 | E>G | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs537438961 CA7529086 |
8 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537438961 CA392174876 |
8 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA270021063 rs772426292 |
10 | M>L | No |
ClinGen gnomAD |
|
|
CA7529083 rs749440567 |
11 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs777705688 CA392174805 |
11 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7529082 rs777705688 |
11 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA270021057 rs558185970 |
12 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558185970 CA7529081 |
12 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1396069392 CA392174780 |
13 | P>S | No |
ClinGen gnomAD |
|
|
rs752826893 CA7529080 |
14 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1309380334 CA392174762 |
14 | R>Q | No |
ClinGen TOPMed |
|
|
CA7529078 rs755343251 |
18 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs144022723 CA7529077 |
19 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371412947 CA7529076 |
19 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392174639 rs758968785 |
21 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749999363 CA7529074 |
21 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392174631 rs749999363 |
21 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7529075 rs758968785 |
21 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392174598 rs1437518433 |
23 | I>F | No |
ClinGen TOPMed |
|
|
rs776100141 CA7529072 |
23 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197303822 CA392174567 |
24 | D>E | No |
ClinGen gnomAD |
|
|
CA270020993 rs917085227 |
24 | D>H | No |
ClinGen TOPMed |
|
|
CA270020996 rs917085227 |
24 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM416920 rs763965666 CA7529070 |
25 | T>A | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1415106913 CA392174557 |
25 | T>S | No |
ClinGen gnomAD |
|
|
rs992851364 CA7529068 |
26 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1264650108 CA392174523 |
27 | S>P | No |
ClinGen gnomAD |
|
|
CA7529063 rs28494549 |
29 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7529065 rs566294914 |
29 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566294914 CA7529064 |
29 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555450359 CA7529066 |
29 | I>V | No |
ClinGen Ensembl |
|
|
CA392174462 rs1427498852 |
30 | E>* | No |
ClinGen TOPMed |
|
|
CA392174450 rs1295149958 |
30 | E>D | No |
ClinGen gnomAD |
|
|
CA392174338 rs1567134646 |
35 | L>F | No |
ClinGen Ensembl |
|
|
CA7529060 rs376157637 |
36 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392174284 rs1370654427 |
38 | A>V | No |
ClinGen TOPMed |
|
|
CA392174275 rs1404209731 |
39 | V>E | No |
ClinGen TOPMed |
|
|
rs28660230 CA270020912 |
40 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs28660230 CA7529059 |
40 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774740591 CA270020918 |
40 | P>S | No |
ClinGen Ensembl |
|
|
CA392174244 rs1388955012 |
41 | R>Q | No |
ClinGen gnomAD |
|
|
rs747443885 CA7529056 |
41 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392174219 rs1462389905 |
42 | H>R | No |
ClinGen gnomAD |
|
|
CA7529053 rs750856647 |
43 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs759014019 CA7529054 |
43 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA392174179 rs756665870 COSM1517229 |
44 | I>M | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7529052 rs201170950 |
44 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753536287 CA7529050 |
45 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7529048 rs760310428 |
46 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA7529047 rs567204073 |
46 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760310428 CA270020865 |
46 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA392174111 rs1266206196 |
48 | L>F | No |
ClinGen gnomAD |
|
|
rs146109978 CA7529029 |
51 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759192725 CA7529028 |
52 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM2188670 CA7529027 rs751517231 |
52 | R>H | large_intestine Variant assessed as Somatic; 0.0002772 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7529025 rs762933365 |
55 | K>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000615751 rs8042868 VAR_033308 CA7529024 |
57 | V>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1433933683 CA392172971 |
58 | L>F | No |
ClinGen TOPMed |
|
|
rs888140644 CA270020671 |
61 | Q>P | No |
ClinGen TOPMed |
|
|
CA392172894 rs1595985701 |
62 | H>Q | No |
ClinGen Ensembl |
|
|
rs1218006237 CA392172918 |
62 | H>Y | No |
ClinGen gnomAD |
|
|
rs139742996 CA7529018 |
65 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139742996 CA7529019 |
65 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771394367 COSM1373065 CA7529017 |
66 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
rs771394367 CA392172829 |
66 | R>G | No |
ClinGen ExAC TOPMed |
|
|
rs749775185 CA7529015 |
66 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1293815387 CA392172801 |
67 | F>C | No |
ClinGen gnomAD |
|
|
rs1433852529 CA392172817 |
67 | F>V | No |
ClinGen TOPMed |
|
|
CA392172774 rs1363233947 |
68 | S>C | No |
ClinGen gnomAD |
|
|
rs1412369508 CA392172747 |
69 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755568758 CA7529012 |
72 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7529010 rs780754672 |
73 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7529009 rs754652195 |
73 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA392172641 rs1410367109 |
74 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA270020651 rs755885533 |
74 | I>V | No |
ClinGen gnomAD |
|
|
CA7529008 rs141294344 |
76 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1297094532 CA392172586 |
77 | I>L | No |
ClinGen gnomAD |
|
|
rs750338105 CA7529005 |
79 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA392172536 rs1595985599 |
79 | H>R | No |
ClinGen Ensembl |
|
|
CA392172542 rs1256843175 |
79 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7529002 rs772244535 |
80 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7529003 rs772244535 |
80 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7529004 rs764284645 |
80 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7529001 rs772244535 |
80 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392172497 rs1308504975 |
81 | Q>R | No |
ClinGen gnomAD |
|
|
CA392172483 rs1351124380 |
82 | R>K | No |
ClinGen gnomAD |
|
|
rs771282534 CA7528997 |
84 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA392172449 rs1595985543 |
84 | L>V | No |
ClinGen Ensembl |
|
|
CA392172330 rs1416144868 |
88 | H>Q | No |
ClinGen gnomAD |
|
|
rs1293316655 CA392172342 |
88 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA392172307 rs1370688341 |
89 | V>E | No |
ClinGen gnomAD |
|
|
CA392172301 rs1370688341 |
89 | V>G | No |
ClinGen gnomAD |
|
|
CA7528995 rs773648730 |
90 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1595985512 CA392172281 |
90 | R>H | No |
ClinGen Ensembl |
|
|
rs1356007367 CA392172272 |
91 | C>R | No |
ClinGen gnomAD |
|
|
CA7528994 rs769296083 |
92 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs747722095 CA7528993 |
93 | Q>* | No |
ClinGen ExAC |
|
|
rs780665141 CA7528992 |
93 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs754634692 CA7528990 |
95 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7528989 rs148292559 |
96 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA270020602 rs937210880 |
97 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7528988 rs779736058 |
98 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750391520 CA7528986 |
102 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392172025 rs1567134066 |
104 | V>A | No |
ClinGen Ensembl |
|
|
rs1567134072 CA618004597 |
104 | V>EGILLPLTM* | No |
ClinGen Ensembl |
|
|
CA392172032 rs1212235464 |
104 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA392172030 rs1212235464 |
104 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1334744614 CA392172016 |
105 | L>H | No |
ClinGen gnomAD |
|
|
rs763150119 CA7528957 |
107 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA392171875 rs1258324536 |
108 | P>R | No |
ClinGen TOPMed |
|
|
rs773616477 CA7528956 |
108 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs765555432 CA7528955 |
110 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs528224326 CA7528954 |
111 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7528952 rs768054631 |
113 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs768054631 CA392171760 |
113 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs200118508 CA7528951 |
114 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172417178 CA392171737 |
114 | I>M | No |
ClinGen TOPMed |
|
|
rs200118508 CA392171745 |
114 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296296574 CA392171728 |
115 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1296296574 CA392171732 |
115 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1342389061 CA392171693 |
116 | F>C | No |
ClinGen gnomAD |
|
|
CA392171714 rs1382836931 |
116 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA392171688 rs1311152713 |
116 | F>L | No |
ClinGen gnomAD |
|
|
CA7528950 rs562241915 |
118 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562241915 CA392171661 |
118 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392171608 rs1326039812 |
121 | N>T | No |
ClinGen gnomAD |
|
|
rs745482778 CA7528948 |
121 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1372991382 CA392171587 |
122 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7528945 rs143907962 |
124 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1461370626 CA392171567 |
124 | I>V | No |
ClinGen gnomAD |
|
|
CA392171540 rs1435484624 |
126 | M>V | No |
ClinGen TOPMed |
|
|
CA7528943 rs549639698 |
127 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763439873 CA270020434 |
127 | V>L | No |
ClinGen Ensembl |
|
|
rs751721831 CA7528942 |
128 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA392171482 rs1193853879 |
130 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7528909 rs762494160 |
132 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA392170090 rs773102038 |
133 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs773102038 CA392170093 |
133 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs773102038 CA7528908 |
133 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1156337864 CA392170063 |
135 | T>A | No |
ClinGen gnomAD |
|
|
rs748139549 CA7528906 |
139 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs768576630 CA7528904 |
141 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA392169969 rs1452403718 |
141 | P>S | No |
ClinGen gnomAD |
|
|
CA7528902 rs778939044 |
146 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs550866834 CA392169872 |
148 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550866834 CA7528900 |
148 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138398505 CA7528901 |
148 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1242751753 CA392169871 |
149 | A>T | No |
ClinGen gnomAD |
|
|
rs778218359 CA392169865 |
150 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778218359 CA7528899 |
150 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303138526 CA392169853 |
151 | W>* | No |
ClinGen gnomAD |
|
|
CA392169844 rs1595979311 |
152 | F>V | No |
ClinGen Ensembl |
|
|
CA7528898 rs756371978 |
163 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA392169648 rs1352149728 |
165 | W>* | No |
ClinGen gnomAD |
|
|
CA392169590 rs1399660357 |
169 | F>S | No |
ClinGen gnomAD |
|
|
rs1160016550 CA392169555 |
172 | F>L | No |
ClinGen gnomAD |
|
|
rs753265562 CA7528896 |
172 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334927085 CA392169530 |
173 | W>* | No |
ClinGen TOPMed |
|
|
CA392169528 rs1334927085 |
173 | W>C | No |
ClinGen TOPMed |
|
|
CA7528895 rs375271210 |
176 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1194062778 CA392169457 |
178 | N>T | No |
ClinGen gnomAD |
|
|
CA7528894 rs755530630 |
181 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1466060996 CA392169420 |
182 | F>S | No |
ClinGen TOPMed |
|
|
rs1368150855 CA392169414 |
183 | V>A | No |
ClinGen gnomAD |
|
|
CA7528893 rs751166444 |
183 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA392169394 rs1188918739 |
186 | M>T | No |
ClinGen TOPMed |
|
|
CA392169363 rs1169508936 |
189 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs543802442 CA7528869 |
192 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753671742 CA392169332 |
194 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7528868 rs753671742 |
194 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs533115631 CA7528867 |
195 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7528866 rs533115631 |
195 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775344976 CA7528865 |
197 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283881313 CA392169320 |
197 | V>I | No |
ClinGen TOPMed |
|
|
rs1203218524 CA392169312 |
198 | G>A | No |
ClinGen gnomAD |
|
|
CA7528863 rs763013959 |
199 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA392169307 rs1484374355 |
199 | V>L | No |
ClinGen gnomAD |
|
|
CA392169295 rs1235259253 |
201 | G>V | No |
ClinGen TOPMed |
|
|
rs1204317608 CA392169290 |
202 | Q>* | No |
ClinGen gnomAD |
|
|
CA7528861 rs748353276 |
202 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs541095848 CA7528862 |
202 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392169283 rs781714778 |
203 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM962046 rs781714778 CA7528859 |
203 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1312824891 CA392169264 |
206 | L>F | No |
ClinGen gnomAD |
|
|
CA7528856 rs199764872 |
210 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA270017354 rs758924152 |
212 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs758924152 CA7528855 |
212 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7528853 rs372630469 |
213 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7528854 rs749949519 |
213 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1595978647 CA392169214 |
214 | V>G | No |
ClinGen Ensembl |
|
|
rs11638719 CA7528852 |
218 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7528851 rs200931532 |
219 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763887345 CA7528850 |
221 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1425752197 CA392169162 |
223 | Q>R | No |
ClinGen gnomAD |
|
|
CA7528849 rs760391934 |
224 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7528848 rs752528849 |
225 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7528847 rs141352021 |
225 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141352021 CA392169148 |
225 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1035562470 CA270017305 |
226 | Q>E | No |
ClinGen TOPMed |
|
|
rs1035562470 CA392169147 |
226 | Q>K | No |
ClinGen TOPMed |
|
|
rs759499814 CA7528846 |
226 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7528845 rs773207863 |
227 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7528844 rs1065392 |
228 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA270017301 rs1065392 |
228 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA270017290 rs386783511 |
228 | Q>RV | No |
ClinGen Ensembl |
|
|
rs1065393 CA270017297 |
229 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1065393 CA270017293 |
229 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs376165935 CA270017285 |
230 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA392169105 CA392169106 rs1223178839 |
232 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7528843 rs762149458 |
233 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs796940326 CA270017281 |
234 | L>M | No |
ClinGen Ensembl |
|
|
CA392169097 rs1227091715 |
234 | L>P | No |
ClinGen TOPMed |
|
|
rs1351829341 CA392169091 |
235 | V>A | No |
ClinGen TOPMed |
|
|
CA392169083 rs1219055005 |
236 | R>S | No |
ClinGen TOPMed |
|
|
rs1297682953 CA392169045 |
240 | S>R | No |
ClinGen gnomAD |
|
|
rs1400794004 CA392169039 |
241 | M>T | No |
ClinGen gnomAD |
|
|
CA7528826 rs140331423 |
242 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392169024 rs1468568874 |
243 | F>C | No |
ClinGen TOPMed |
|
|
CA7528823 rs764458768 |
244 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261791426 CA392169011 |
245 | L>F | No |
ClinGen gnomAD |
|
|
CA7528820 rs772431410 |
246 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392169008 rs775746705 CA7528821 |
246 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA7528819 rs746372122 |
250 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA392168981 rs1345372840 |
250 | I>T | No |
ClinGen gnomAD |
|
|
CA392168984 rs746372122 |
250 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1257556684 CA392168977 |
251 | F>I | No |
ClinGen gnomAD |
|
|
rs1436714518 CA392168975 |
251 | F>S | No |
ClinGen TOPMed |
|
|
CA7528817 rs771418615 |
252 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs373885397 CA7528818 |
252 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392168962 rs1335643154 |
253 | Y>H | No |
ClinGen TOPMed |
|
|
rs777246065 CA7528814 |
254 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7528815 rs748851111 |
254 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7528813 rs755808045 |
256 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7528811 rs780874595 |
257 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA270016942 rs994625588 |
257 | V>L | No |
ClinGen TOPMed |
|
|
CA270016941 rs899286943 |
259 | G>S | No |
ClinGen TOPMed |
|
|
rs754746013 CA7528810 |
260 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA7528808 rs368268477 |
262 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA270016913 rs1047098503 |
264 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7528805 rs764229568 |
265 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs760827905 CA7528804 |
267 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs150929073 CA392168870 |
268 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7528803 rs150929073 |
268 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7528802 rs767775803 |
268 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392168855 rs1258694519 |
269 | S>L | No |
ClinGen gnomAD |
|
|
CA270016899 rs780615430 |
270 | P>S | No |
ClinGen Ensembl |
|
|
CA7528801 rs774680387 |
271 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774680387 CA7528800 |
271 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749767558 CA7528798 |
271 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749767558 CA392168835 |
271 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749767558 CA7528799 |
271 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244286725 CA392168786 |
274 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA270016881 rs539776990 |
275 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7528797 rs539776990 |
275 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1315249812 CA392168740 |
276 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs769247393 CA7528796 |
277 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs112488180 CA7528792 |
281 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112488180 CA7528793 |
281 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139147174 CA7528768 |
284 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392166483 rs1287151536 |
288 | V>A | No |
ClinGen gnomAD |
|
|
CA392166464 rs1223933717 |
289 | T>K | No |
ClinGen TOPMed |
|
|
CA7528765 rs781105245 |
291 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392166294 rs1567127575 |
297 | D>Y | No |
ClinGen Ensembl |
|
|
rs375430317 CA270015864 |
298 | H>R | No |
ClinGen ESP TOPMed |
|
|
CA270015863 rs956684617 |
300 | Y>C | No |
ClinGen TOPMed |
|
|
rs750782349 CA7528759 |
302 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7528757 rs762206064 |
303 | L>P | No |
ClinGen ExAC TOPMed |
|
|
rs768001162 CA7528755 |
306 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392166014 rs1173032222 |
310 | P>R | No |
ClinGen gnomAD |
|
|
rs1478980670 CA392166006 |
311 | E>K | No |
ClinGen gnomAD |
|
|
CA392165971 rs1383633756 |
312 | V>A | No |
ClinGen TOPMed |
|
|
CA392165979 rs1382744862 |
312 | V>F | No |
ClinGen TOPMed |
|
|
rs771842942 CA7528752 |
314 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA392165916 rs1488072895 |
314 | R>H | No |
ClinGen gnomAD |
|
|
rs1488072895 CA392165918 |
314 | R>L | No |
ClinGen gnomAD |
|
|
rs745711518 CA7528751 |
315 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1440980713 CA392165832 |
317 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA392165796 rs1595974157 |
319 | I>N | No |
ClinGen Ensembl |
|
|
rs1312970163 CA392165806 |
319 | I>V | No |
ClinGen TOPMed |
|
|
rs376695111 CA7528749 |
320 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749143013 CA7528748 |
321 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1347786786 CA392165723 |
322 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA392165696 rs1275736849 |
323 | L>F | No |
ClinGen gnomAD |
|
|
CA7528747 rs781356966 |
324 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA392165651 rs1340744245 |
325 | L>F | No |
ClinGen gnomAD |
|
|
CA392165635 rs1299586290 |
326 | L>F | No |
ClinGen gnomAD |
|
|
CA392165591 rs1358311903 |
330 | I>T | No |
ClinGen gnomAD |
|
|
rs1412553931 CA392165596 |
330 | I>V | No |
ClinGen gnomAD |
|
|
rs1349178979 CA392165580 |
331 | I>N | No |
ClinGen TOPMed |
|
|
CA7528746 rs754997082 |
331 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416071436 CA392165567 |
332 | F>S | No |
ClinGen gnomAD |
|
|
CA7528745 rs747240025 |
333 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780321746 CA7528744 |
333 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392165532 rs1181424306 |
335 | I>V | No |
ClinGen TOPMed |
|
|
rs1477575062 CA392165520 |
336 | I>V | No |
ClinGen gnomAD |
|
|
CA7528743 rs758605785 |
337 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7528742 rs750837411 |
339 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA392165438 rs1164145885 |
340 | M>I | No |
ClinGen gnomAD |
|
|
CA392165458 rs1237220656 |
340 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1047096342 CA392165432 |
341 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA270015809 rs1047096342 |
341 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746026937 CA7528725 |
342 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392165360 rs746026937 |
342 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7528724 rs376522370 |
343 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7528723 rs757496766 |
344 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA392165244 rs1379072948 |
348 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7528722 CA392165234 rs754225338 |
348 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA7528721 rs764563891 |
350 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349377669 CA392165178 |
351 | L>R | No |
ClinGen gnomAD |
|
|
rs375493749 CA7528720 |
352 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7528719 rs752292844 |
355 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA7528718 rs767092489 |
356 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs372552501 CA7528716 |
357 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7528715 rs376517321 |
357 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA270015742 rs376517321 |
357 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7528714 rs148320269 |
358 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1005796640 COSM1373063 CA270015741 |
358 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1223246564 CA392165021 |
360 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1223246564 CA392165024 |
360 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1285001591 CA392164967 |
363 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs769772894 CA7528712 |
363 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1026137026 CA270015734 |
364 | A>T | No |
ClinGen TOPMed |
|
|
CA392164952 rs1240658845 |
364 | A>V | No |
ClinGen gnomAD |
|
|
CA7528711 rs748049661 |
365 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA7528708 rs746105797 |
366 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294228882 CA392164917 |
366 | M>T | No |
ClinGen gnomAD |
|
|
rs149429390 CA7528709 |
366 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7528707 rs140027806 |
367 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7528704 rs371904029 |
369 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749660079 CA7528705 |
369 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392164852 rs1433137578 |
370 | Q>E | No |
ClinGen gnomAD |
|
|
rs753210262 CA7528702 |
370 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs780865625 CA7528701 |
374 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA392164669 rs1395866503 |
374 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1403527141 CA392164665 |
375 | R>G | No |
ClinGen gnomAD |
|
|
rs1339203739 CA392164660 |
375 | R>T | No |
ClinGen gnomAD |
|
|
CA7528678 rs536781335 |
376 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755500633 CA392164617 |
377 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs755500633 CA7528677 |
377 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs751080211 CA7528676 |
378 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176176687 CA392164601 |
378 | M>T | No |
ClinGen TOPMed |
|
|
CA392164611 rs1473084166 |
378 | M>V | No |
ClinGen TOPMed |
|
|
CA392164569 rs1470788441 |
379 | S>L | No |
ClinGen TOPMed |
|
|
rs1186573887 CA392164542 |
381 | E>* | No |
ClinGen gnomAD |
|
|
rs779585714 CA7528674 |
382 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7528673 rs574035420 |
382 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7528671 rs765019330 |
383 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs118057114 CA7528669 |
384 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147058893 CA7528667 |
385 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392164478 rs1244354485 |
385 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7528666 rs147058893 |
385 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392164443 rs1317651643 |
387 | H>P | No |
ClinGen gnomAD |
|
|
rs1317651643 CA392164441 |
387 | H>R | No |
ClinGen gnomAD |
|
|
rs1445178553 CA392164423 |
388 | S>N | No |
ClinGen gnomAD |
|
|
rs770990416 CA7528665 |
390 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA392164388 rs1314276191 |
390 | I>T | No |
ClinGen gnomAD |
|
|
rs143143156 CA7528662 |
391 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1225634878 CA392164369 |
391 | E>G | No |
ClinGen TOPMed |
|
|
rs763095521 CA7528664 |
391 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs374107739 CA7528661 |
392 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173423436 CA392164359 |
392 | D>N | No |
ClinGen gnomAD |
|
|
rs1162216811 CA392164338 |
393 | S>G | No |
ClinGen gnomAD |
|
|
rs538267280 CA7528660 |
393 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392162431 rs1555448678 |
395 | R>G | No |
ClinGen Ensembl |
|
|
CA7528618 rs764216377 |
396 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs148245848 CA7528617 |
397 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1275781107 CA392162351 |
397 | A>V | No |
ClinGen gnomAD |
|
|
rs1362284738 CA392162333 |
398 | S>N | No |
ClinGen gnomAD |
|
|
rs775695333 CA7528616 |
400 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs143154095 CA7528614 |
407 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143154095 CA7528613 |
407 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770365989 CA7528612 |
408 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA392161995 rs777550990 CA7528610 |
413 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7528609 rs769321547 |
414 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA392161973 rs1308972415 |
415 | N>D | No |
ClinGen TOPMed |
|
|
rs780823306 CA7528607 |
421 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754997892 CA7528606 |
422 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392161846 rs1184696590 |
422 | D>Y | No |
ClinGen gnomAD |
|
|
rs1255581076 CA392161820 |
423 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA392161803 rs1197524446 |
424 | I>R | No |
ClinGen gnomAD |
|
|
CA392161815 rs1567125581 |
424 | I>V | No |
ClinGen Ensembl |
|
|
rs751495331 CA7528605 |
425 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355322738 CA392161731 |
428 | S>A | No |
ClinGen gnomAD |
|
|
CA392161704 rs1454480351 |
429 | K>N | No |
ClinGen gnomAD |
|
|
rs138192479 CA7528604 |
430 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392161595 rs1355190761 |
434 | L>F | No |
ClinGen gnomAD |
|
|
CA392161569 rs1172727107 |
435 | S>* | No |
ClinGen gnomAD |
|
|
rs1403835230 CA392161530 |
437 | K>Q | No |
ClinGen gnomAD |
|
|
rs757341108 CA7528602 |
437 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1464555864 CA392161376 |
442 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1171642363 CA392161387 |
442 | S>P | No |
ClinGen TOPMed |
|
|
CA392161313 rs1456112623 |
444 | S>F | No |
ClinGen TOPMed |
|
|
CA7528599 rs760776792 |
445 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394525521 CA392161259 |
446 | V>A | No |
ClinGen TOPMed |
|
|
rs146674703 CA7528595 |
448 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1292197727 CA392161200 |
449 | T>A | No |
ClinGen gnomAD |
|
|
rs1231638372 CA392161138 |
451 | S>A | No |
ClinGen TOPMed |
|
|
rs1308357442 CA392161080 |
453 | Y>C | No |
ClinGen gnomAD |
|
|
rs1567125414 CA392161008 |
457 | S>P | No |
ClinGen Ensembl |
|
|
rs772578660 CA7528589 |
460 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA270014596 rs372955193 |
461 | F>S | No |
ClinGen Ensembl |
|
|
CA7528586 rs781063195 |
464 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365252061 CA392160797 |
465 | I>V | No |
ClinGen gnomAD |
|
|
rs1358983313 CA392160571 |
466 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1358983313 CA392160573 |
466 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs542033034 CA7528569 |
467 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7528566 rs558757476 |
467 | R>H | No |
ClinGen ExAC TOPMed |
|
|
CA7528568 rs558757476 |
467 | R>P | No |
ClinGen ExAC TOPMed |
|
|
CA392160515 rs1188121185 |
468 | L>S | No |
ClinGen TOPMed |
|
|
rs1347521556 CA392160439 |
470 | W>R | No |
ClinGen gnomAD |
|
|
rs745743399 CA7528562 |
473 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7528563 rs772077547 |
473 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA392160204 rs1567125178 |
475 | H>Y | No |
ClinGen Ensembl |
|
|
CA7528560 rs756080190 |
476 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392160125 rs1205561694 |
477 | N>H | No |
ClinGen gnomAD |
|
|
rs139541328 CA7528558 |
479 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7528556 rs199872468 |
480 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs539777029 CA270014381 |
481 | L>P | No |
ClinGen 1000Genomes |
|
|
CA7528553 rs750840707 |
483 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338784955 CA392159814 |
484 | M>I | No |
ClinGen gnomAD |
|
|
rs1295284094 CA392159770 |
485 | D>V | No |
ClinGen gnomAD |
|
|
rs1270890005 CA392159696 |
487 | D>G | No |
ClinGen TOPMed |
|
|
CA392159706 rs1227345368 |
487 | D>H | No |
ClinGen TOPMed |
|
|
CA7528552 rs764811253 |
488 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA392159670 rs1383191884 |
488 | D>G | No |
ClinGen gnomAD |
|
|
rs571116026 CA7528551 |
489 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392159653 rs571116026 |
489 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1469758248 CA392159623 |
489 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs541366514 CA270014376 |
490 | V>G | No |
ClinGen Ensembl |
|
|
rs369323732 CA7528550 |
491 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7528549 rs763876192 |
493 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760360372 CA7528548 |
495 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483903831 CA392159445 |
495 | S>P | No |
ClinGen Ensembl |
|
|
CA270014364 rs941825678 |
496 | L>V | No |
ClinGen TOPMed |
|
|
CA7528547 rs377026307 RCV000627273 |
498 | R>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs771706891 CA7528546 |
498 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461745418 CA392159255 |
500 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7528544 rs368692748 |
500 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781219409 CA7528541 |
504 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7528542 rs151297711 |
504 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755225756 CA392159050 CA7528540 |
505 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320888247 CA392158988 |
507 | Q>H | No |
ClinGen TOPMed |
|
|
rs534151726 CA7528539 |
508 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1311067897 CA392158924 |
509 | N>D | No |
ClinGen gnomAD |
|
|
CA7528537 rs758627479 |
511 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA392158849 rs758627479 |
511 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA270014318 rs959917163 |
511 | E>K | No |
ClinGen TOPMed |
|
|
CA270014313 rs748663262 |
512 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7528534 rs148790135 |
513 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7528533 rs144399798 |
513 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148790135 CA7528535 |
513 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7528532 rs568471736 |
514 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392158754 rs568471736 |
514 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1366472893 CA392158662 |
517 | Q>H | No |
ClinGen gnomAD |
|
|
rs1441614512 CA392158673 |
517 | Q>P | No |
ClinGen TOPMed |
|
|
CA7528531 rs760413368 |
520 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772212151 CA7528497 |
521 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs752331302 CA7528530 |
521 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746051657 CA7528496 |
522 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs551873150 CA7528494 |
527 | L>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749665738 CA7528493 |
529 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392158026 rs1241962034 |
530 | K>* | No |
ClinGen gnomAD |
1 associated diseases with Q96P56
[MIM: 611102]: Deafness-infertility syndrome (DIS)
Characterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes. {ECO:0000269|PubMed:12825070, ECO:0000269|PubMed:17098888}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Characterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes. {ECO:0000269|PubMed:12825070, ECO:0000269|PubMed:17098888}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q96P56
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ion transport domain | 108 - 350 | IPR005821 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| CatSper complex | A sperm-specific voltage-gated calcium channel that controls the intracellular calcium ion concentration and, thereby, the swimming behavior of sperm. Consists of a heteromeric tetramer surrounding a calcium ion- selective pore. May also contain additional auxiliary subunits. |
| motile cilium | A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium activated cation channel activity | Enables the calcium concentration-regulatable energy-independent passage of cations across a lipid bilayer down a concentration gradient. |
| calcium channel activity | Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| voltage-gated ion channel activity | Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| fertilization | The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). |
| flagellated sperm motility | The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
| sperm capacitation | A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6YLX9 | TPC1 | Two pore calcium channel protein 1 | Triticum aestivum (Wheat) | PR |
| P91645 | MED20 | Voltage-dependent calcium channel type A subunit alpha-1 | Drosophila melanogaster (Fruit fly) | PR |
| Q86XQ3 | CATSPER3 | Cation channel sperm-associated protein 3 | Homo sapiens (Human) | PR |
| Q9UQD0 | SCN8A | Sodium channel protein type 8 subunit alpha | Homo sapiens (Human) | PR |
| Q9Y5Y9 | SCN10A | Sodium channel protein type 10 subunit alpha | Homo sapiens (Human) | PR |
| Q14524 | SCN5A | Sodium channel protein type 5 subunit alpha | Homo sapiens (Human) | PR |
| Q9WTU3 | Scn8a | Sodium channel protein type 8 subunit alpha | Mus musculus (Mouse) | PR |
| Q6QIY3 | Scn10a | Sodium channel protein type 10 subunit alpha | Mus musculus (Mouse) | PR |
| Q62205 | Scn9a | Sodium channel protein type 9 subunit alpha | Mus musculus (Mouse) | PR |
| Q9JJV9 | Scn5a | Sodium channel protein type 5 subunit alpha | Mus musculus (Mouse) | PR |
| A2ARP9 | Catsper2 | Cation channel sperm-associated protein 2 | Mus musculus (Mouse) | PR |
| O88420 | Scn8a | Sodium channel protein type 8 subunit alpha | Rattus norvegicus (Rat) | PR |
| O88457 | Scn11a | Sodium channel protein type 11 subunit alpha | Rattus norvegicus (Rat) | PR |
| Q62968 | Scn10a | Sodium channel protein type 10 subunit alpha | Rattus norvegicus (Rat) | PR |
| Q5QM84 | TPC1 | Two pore calcium channel protein 1 | Oryza sativa subsp japonica (Rice) | PR |
| Q94KI8 | TPC1 | Two pore calcium channel protein 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAYQQEEQM | QLPRADAIRS | RLIDTFSLIE | HLQGLSQAVP | RHTIRELLDP | SRQKKLVLGD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QHQLVRFSIK | PQRIEQISHA | QRLLSRLHVR | CSQRPPLSLW | AGWVLECPLF | KNFIIFLVFL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NTIILMVEIE | LLESTNTKLW | PLKLTLEVAA | WFILLIFILE | ILLKWLSNFS | VFWKSAWNVF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DFVVTMLSLL | PEVVVLVGVT | GQSVWLQLLR | ICRVLRSLKL | LAQFRQIQII | ILVLVRALKS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MTFLLMLLLI | FFYIFAVTGV | YVFSEYTRSP | RQDLEYHVFF | SDLPNSLVTV | FILFTLDHWY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ALLQDVWKVP | EVSRIFSSIY | FILWLLLGSI | IFRSIIVAMM | VTNFQNIRKE | LNEEMARREV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QLKADMFKRQ | IIQRRKNMSH | EALTSSHSKI | EDSSRGASQQ | RESLDLSEVS | EVESNYGATE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EDLITSASKT | EETLSKKREY | QSSSCVSSTS | SSYSSSSESR | FSESIGRLDW | ETLVHENLPG |
| 490 | 500 | 510 | 520 | ||
| LMEMDQDDRV | WPRDSLFRYF | ELLEKLQYNL | EERKKLQEFA | VQALMNLEDK |