Q8WUM9
Gene name |
SLC20A1 (GLVR1, PIT1) |
Protein name |
Sodium-dependent phosphate transporter 1 |
Names |
Gibbon ape leukemia virus receptor 1, GLVR-1, Leukemia virus receptor 1 homolog, Phosphate transporter 1, PiT-1, Solute carrier family 20 member 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6574 |
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 Q8WUM9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8WUM9-F1 | Predicted | AlphaFoldDB |
478 variants for Q8WUM9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA348280395 rs1423236106 |
2 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1835686 rs778228755 |
3 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1168090440 CA348280415 |
3 | T>M | No |
ClinGen gnomAD |
|
|
CA1835687 rs749743449 |
4 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA348280446 rs1343553210 |
7 | S>G | No |
ClinGen gnomAD |
|
|
CA1835689 rs771575416 |
7 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA348280461 rs1178350372 |
8 | T>P | No |
ClinGen gnomAD |
|
|
rs1278242011 CA348280469 |
8 | T>S | No |
ClinGen gnomAD |
|
|
rs779694210 CA1835690 |
9 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1212386264 CA348280481 |
9 | T>I | No |
ClinGen gnomAD |
|
|
rs1292485544 CA348280492 |
10 | A>G | No |
ClinGen gnomAD |
|
|
rs1335802515 CA348280501 |
11 | A>G | No |
ClinGen TOPMed |
|
|
rs1007199610 CA53666277 |
12 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1835691 rs746581127 |
12 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA348280536 rs1574177659 |
15 | S>P | No |
ClinGen Ensembl |
|
|
CA1835694 rs761561785 |
16 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1474559369 CA348280578 CA348280579 |
18 | L>F | No |
ClinGen gnomAD |
|
|
rs558248507 CA53666299 |
18 | L>S | No |
ClinGen 1000Genomes |
|
|
CA1835696 rs773006725 |
19 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1835695 rs149661034 |
19 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1835697 rs202070891 |
20 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1425129478 CA348280600 |
20 | D>G | No |
ClinGen gnomAD |
|
|
CA1835698 rs766371866 |
22 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1835700 rs759584171 |
25 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs377644769 CA1835702 |
26 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348280703 rs1574177706 |
27 | L>P | No |
ClinGen Ensembl |
|
|
rs1245759647 CA348280717 |
29 | F>L | No |
ClinGen gnomAD |
|
|
CA1835704 rs764493271 |
31 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1021154291 CA53666403 |
34 | V>G | No |
ClinGen TOPMed |
|
|
CA348280832 rs1166739937 |
35 | L>V | No |
ClinGen TOPMed |
|
|
rs1217921423 CA348280848 |
36 | A>T | No |
ClinGen gnomAD |
|
|
CA53666408 rs780003002 |
37 | F>L | No |
ClinGen Ensembl |
|
|
rs1445418251 COSM714736 CA348280903 |
39 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 41 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348281029 rs1169491855 |
47 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 56 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 57 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348281161 rs1444205177 |
58 | T>A | No |
ClinGen gnomAD |
|
|
rs1193771536 CA348281178 |
59 | L>V | No |
ClinGen TOPMed |
|
|
rs1009014063 CA53666430 |
60 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1835707 rs779599521 |
62 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs779599521 CA53666445 |
62 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA53666469 rs900542424 |
64 | I>V | No |
ClinGen Ensembl |
|
|
CA1835708 rs534352386 |
65 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780760665 CA1835710 |
67 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1835712 rs769550112 |
71 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1835713 rs575071662 |
72 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348281330 rs1451402840 |
74 | S>P | No |
ClinGen gnomAD |
|
|
CA1835714 rs749122077 |
75 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA348281337 rs1335159740 |
75 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201375880 CA1835715 |
77 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1574177841 CA348281376 |
81 | V>G | No |
ClinGen Ensembl |
|
|
CA1835716 rs774223833 |
83 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA348281394 rs1461053513 |
84 | T>A | No |
ClinGen gnomAD |
|
|
rs1364851062 CA348281403 |
85 | I>M | No |
ClinGen gnomAD |
|
|
CA1835717 rs139763523 |
85 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348281412 rs1458976372 |
87 | K>T | No |
ClinGen gnomAD |
|
|
rs374197513 CA348281418 |
88 | G>C | No |
ClinGen Ensembl |
|
|
rs374197513 CA53666544 |
88 | G>S | No |
ClinGen Ensembl |
|
|
CA1835718 rs767428504 |
88 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775651843 CA1835719 |
89 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 92 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468506744 CA348281442 |
92 | V>M | No |
ClinGen gnomAD |
|
|
rs146613177 CA1835720 |
93 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1429311044 CA348281457 |
94 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA348281476 rs1334363261 |
96 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1402011123 CA348281478 |
96 | N>K | No |
ClinGen gnomAD |
|
|
CA348281475 rs1334363261 |
96 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764474892 CA1835721 |
96 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1835723 rs757741838 |
97 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1835722 rs754220323 |
97 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1835724 COSM4136116 rs765731739 |
99 | Q>E | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1014651360 CA53666582 |
100 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 100 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199911692 CA53666595 |
103 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs916227171 CA53666598 |
104 | A>S | No |
ClinGen gnomAD |
|
|
CA348281519 rs916227171 |
104 | A>T | No |
ClinGen gnomAD |
|
|
rs1260300034 CA348281522 |
104 | A>V | No |
ClinGen gnomAD |
|
|
rs980288076 CA53666623 |
106 | S>L | No |
ClinGen gnomAD |
|
|
CA1835729 rs755692627 |
110 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA348281559 rs1269513531 |
110 | M>T | No |
ClinGen gnomAD |
|
|
CA348281555 rs1200830967 |
110 | M>V | No |
ClinGen gnomAD |
|
|
rs777451974 CA1835730 |
111 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs777295060 CA1835750 |
114 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753421218 CA1835751 |
116 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1247956785 CA348281638 |
120 | A>V | No |
ClinGen gnomAD |
|
|
CA1835755 rs771870685 |
122 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs745739611 CA1835754 |
122 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1485945264 CA348281678 |
126 | P>L | No |
ClinGen gnomAD |
|
|
rs746938555 CA1835757 |
127 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1835759 rs770231199 |
137 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348281754 rs1349437056 |
138 | I>T | No |
ClinGen TOPMed |
|
|
rs1384946288 CA348281750 |
138 | I>V | No |
ClinGen gnomAD |
|
|
rs1305034465 CA348281766 |
140 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1835761 rs770211727 |
141 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs770211727 CA348281774 |
141 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 142 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763426663 CA1835763 |
143 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348281792 rs1287163637 |
145 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA348281794 rs1287163637 |
145 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1835764 rs41279744 |
145 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 148 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453593675 CA348281825 |
149 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 149 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1835765 rs191761952 |
151 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA348281836 rs191761952 |
151 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348281854 rs1377269719 |
153 | S>F | No |
ClinGen TOPMed |
|
|
COSM714735 CA1835766 rs760040356 |
154 | E>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1835767 rs763536324 |
156 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1309128747 CA348281882 |
158 | I>V | No |
ClinGen gnomAD |
|
|
rs1291200646 CA348282177 |
160 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA348282186 rs1175926992 |
160 | M>T | No |
ClinGen gnomAD |
|
|
CA1835786 rs774593041 |
161 | S>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA348282234 rs1480836557 |
162 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA53666977 rs774792166 |
166 | P>Q | No |
ClinGen Ensembl |
|
|
CA1835789 rs776084892 |
168 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348282353 rs776084892 |
168 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764671597 CA348282377 |
169 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764671597 CA1835791 |
169 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347300489 CA348282422 |
171 | I>S | No |
ClinGen gnomAD |
|
|
rs750048519 CA1835792 |
172 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs758004105 CA1835793 |
173 | S>C | No |
ClinGen ExAC |
|
|
rs1343283458 CA348282493 |
175 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 181 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766187428 CA1835794 |
181 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA348282605 COSM714734 rs1451742197 |
181 | R>H | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA348282620 rs1574178485 |
182 | A>V | No |
ClinGen Ensembl |
|
|
rs751469137 CA1835795 |
183 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs369254653 CA1835797 |
184 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 186 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1835798 rs748120528 |
186 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1438821429 CA348282695 |
187 | K>N | No |
ClinGen TOPMed |
|
|
rs746108215 CA1835823 |
188 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs891836701 CA53658422 |
188 | A>T | No |
ClinGen Ensembl |
|
|
CA1835824 rs746108215 |
188 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780397456 CA1835825 |
189 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA1835826 rs747540640 |
189 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348279416 rs1343518651 |
191 | V>L | No |
ClinGen TOPMed |
|
|
CA1835827 rs769113530 |
192 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772749728 CA1835828 |
197 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1835829 rs762422707 |
200 | V>A | No |
ClinGen ExAC |
|
|
rs1158275445 CA348279544 |
202 | Y>C | No |
ClinGen TOPMed |
|
|
rs535912709 CA348279551 |
203 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs535912709 CA1835830 |
203 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348279556 rs1245694306 |
203 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774108947 CA1835831 |
204 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1420607728 CA348279581 |
205 | T>I | No |
ClinGen TOPMed |
|
|
rs773074656 CA1835832 |
206 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1835833 rs767364132 |
207 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs752597232 CA1835834 |
208 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759441522 CA53658462 |
210 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763976774 CA1835836 |
211 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 212 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184127607 CA348279678 |
214 | M>T | No |
ClinGen TOPMed |
|
|
CA53658468 rs201514397 |
214 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1835837 rs753931777 |
215 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 215 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348279724 rs555852623 |
217 | G>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA53658479 rs555852623 |
217 | G>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1835840 rs760415578 |
219 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 221 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348280739 rs1204114682 |
222 | G>D | No |
ClinGen gnomAD |
|
|
CA1835890 rs746582790 |
225 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1835891 rs367664642 |
226 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1161392345 CA348280846 |
228 | L>P | No |
ClinGen gnomAD |
|
|
rs371185107 CA1835892 |
229 | W>C | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1574187373 CA348280864 |
229 | W>L | No |
ClinGen Ensembl |
|
|
CA1835893 rs373737331 |
232 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1574187391 CA348280925 |
233 | L>P | No |
ClinGen Ensembl |
|
|
CA53661779 rs915647967 |
233 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs968478367 CA53661785 |
234 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1835894 rs367940908 |
235 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367940908 CA348280954 |
235 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1337107177 CA348280958 |
236 | V>M | No |
ClinGen gnomAD |
|
|
rs1558693687 CA348281000 |
239 | A>S | No |
ClinGen Ensembl |
|
|
CA348281007 rs1308521579 |
239 | A>V | No |
ClinGen gnomAD |
|
|
rs774549910 CA348281055 COSM418614 |
243 | A>S | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs774549910 CA1835899 |
243 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1184282093 CA348281082 |
245 | I>T | No |
ClinGen TOPMed |
|
|
CA348281089 rs753087768 |
246 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753087768 CA1835902 |
246 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753087768 CA348281088 |
246 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA348281102 rs1482565868 TCGA novel |
247 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA1835903 rs756497809 |
248 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 250 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348281199 rs1253881123 |
254 | M>R | No |
ClinGen gnomAD |
|
|
rs935537199 CA53661862 |
255 | K>R | No |
ClinGen Ensembl |
|
|
rs764583377 CA1835904 |
256 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 256 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348281224 rs1418630397 |
256 | R>T | No |
ClinGen gnomAD |
|
|
rs1431764688 CA348281273 |
260 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs762218609 CA1835931 |
261 | E>G | No |
ClinGen ExAC |
|
|
CA348282023 rs1574188924 |
264 | C>G | No |
ClinGen Ensembl |
|
|
CA348282030 rs1574188939 |
264 | C>W | No |
ClinGen Ensembl |
|
|
rs1443545123 CA348282034 |
265 | S>G | No |
ClinGen TOPMed |
|
|
rs765825896 CA1835932 |
265 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA348282052 rs1574188949 |
266 | P>L | No |
ClinGen Ensembl |
|
|
CA348282063 rs1574188952 |
267 | S>F | No |
ClinGen Ensembl |
|
|
CA53663117 rs878874905 |
272 | M>L | No |
ClinGen Ensembl |
|
|
rs750918259 CA1835933 |
272 | M>R | No |
ClinGen ExAC |
|
| TCGA novel | 276 | N>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752290078 CA1835936 |
277 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1408556376 CA348282318 |
282 | H>D | No |
ClinGen gnomAD |
|
|
rs777541851 CA1835938 |
282 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1835939 rs201347526 |
283 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348282358 rs1331538071 |
283 | E>V | No |
ClinGen gnomAD |
|
|
CA348282425 rs1166706631 |
286 | K>T | No |
ClinGen gnomAD |
|
|
CA348282471 rs1189240775 |
288 | S>C | No |
ClinGen TOPMed |
|
|
rs770750611 CA1835940 |
289 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs778859962 CA1835941 |
292 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA53663212 rs926838863 |
293 | E>G | No |
ClinGen TOPMed |
|
|
rs200685704 CA53663218 |
294 | N>K | No |
ClinGen 1000Genomes |
|
|
CA348282578 rs1260721885 |
294 | N>S | No |
ClinGen TOPMed |
|
|
CA53663220 rs202157771 |
295 | K>M | No |
ClinGen Ensembl |
|
|
rs772122673 CA1835944 |
298 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA348282690 rs1365003831 |
299 | S>F | No |
ClinGen gnomAD |
|
|
rs1282047892 CA348282703 |
300 | E>V | No |
ClinGen gnomAD |
|
|
CA348282712 rs1433325776 |
301 | V>E | No |
ClinGen gnomAD |
|
|
CA348282727 rs1360753679 |
303 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs372292907 CA1835946 |
306 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1014541509 CA53663235 |
307 | P>R | No |
ClinGen Ensembl |
|
|
rs777116177 COSM134036 CA1835948 |
308 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1835950 rs762192682 |
309 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs762192682 CA1835949 |
309 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs149823520 CA53663283 |
309 | Q>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1835951 rs750880631 |
310 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs763384310 CA1835952 |
311 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA348282863 rs1473059329 |
315 | R>* | No |
ClinGen gnomAD |
|
|
CA348282882 rs1180790661 |
316 | T>R | No |
ClinGen gnomAD |
|
|
rs1401929976 CA348282895 |
317 | V>G | No |
ClinGen gnomAD |
|
|
CA348282886 rs1410906786 |
317 | V>I | No |
ClinGen gnomAD |
|
|
CA348282888 rs1410906786 |
317 | V>L | No |
ClinGen gnomAD |
|
|
CA1835954 rs752271980 |
321 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs755734378 CA1835955 |
323 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1001597756 CA348282941 |
324 | L>S | No |
ClinGen TOPMed |
|
|
CA53663306 rs1001597756 |
324 | L>W | No |
ClinGen TOPMed |
|
|
CA348282981 rs1339057740 |
327 | A>T | No |
ClinGen gnomAD |
|
|
CA53663317 rs1033109842 |
329 | E>A | No |
ClinGen Ensembl |
|
|
rs1296654092 CA348283032 |
330 | R>S | No |
ClinGen TOPMed |
|
|
CA348283037 rs1282505424 |
331 | E>Q | No |
ClinGen gnomAD |
|
|
CA1835957 rs763783121 |
333 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs763783121 CA1835958 |
333 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs757036701 CA1835959 |
334 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA53663340 rs957463473 |
334 | P>S | No |
ClinGen Ensembl |
|
|
CA1835960 rs778577340 |
335 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA348283090 rs778577340 |
335 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1574189250 CA348283113 |
336 | V>G | No |
ClinGen Ensembl |
|
|
CA1835962 rs758464142 |
336 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 336 | V>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574189259 CA348283120 |
337 | D>G | No |
ClinGen Ensembl |
|
|
rs543798918 CA1835964 |
338 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA53663409 rs377303577 |
340 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA348283153 rs1574189281 |
340 | E>K | No |
ClinGen Ensembl |
|
|
CA348283213 rs1470904653 |
344 | I>M | No |
ClinGen gnomAD |
|
|
CA1835966 rs373019890 |
344 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348283221 rs1182233898 |
345 | D>G | No |
ClinGen gnomAD |
|
|
rs1372209370 CA348283229 |
346 | S>C | No |
ClinGen TOPMed |
|
|
CA348283247 rs1471378708 |
347 | T>I | No |
ClinGen gnomAD |
|
|
rs770142025 CA348283250 |
348 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1835968 rs770142025 |
348 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369199442 CA53663434 |
350 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
RCV000879799 CA1835983 rs113994840 |
351 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA53663542 rs968178606 |
351 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 352 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201256222 CA1835985 |
355 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748388833 CA1835986 COSM3961000 |
356 | N>D | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1307502502 CA348283377 |
356 | N>K | No |
ClinGen gnomAD |
|
|
rs1175459427 CA348283391 |
358 | N>H | No |
ClinGen TOPMed |
|
| TCGA novel | 358 | N>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1835987 rs769977611 |
359 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1558694904 CA348283433 |
361 | Q>L | No |
ClinGen Ensembl |
|
| TCGA novel | 361 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 365 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478277333 CA348283471 |
365 | A>T | No |
ClinGen TOPMed |
|
|
CA1835990 rs147673696 |
366 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1835991 rs774798698 |
367 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1835992 rs760040431 |
369 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348283518 rs1437369649 |
370 | I>R | No |
ClinGen TOPMed |
|
|
CA1835993 rs373453790 |
371 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1574189516 CA348283528 |
371 | N>T | No |
ClinGen Ensembl |
|
|
rs1273822472 CA348283539 |
372 | S>Y | No |
ClinGen gnomAD |
|
|
rs1238991594 CA348283549 |
373 | S>G | No |
ClinGen TOPMed |
|
|
rs1267649484 CA348283570 |
374 | G>V | No |
ClinGen gnomAD |
|
|
rs1302004354 CA348283582 |
375 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1835996 rs764835023 |
377 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1450471766 CA348283646 |
381 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA348283648 rs1450471766 |
381 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA53663652 rs917601016 |
382 | H>R | No |
ClinGen Ensembl |
|
|
CA348283659 rs1224576423 |
382 | H>Y | No |
ClinGen TOPMed |
|
|
CA1836002 rs781328277 |
387 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA348283722 rs781328277 |
387 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 388 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 391 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 394 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1836003 rs752761194 |
396 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1836005 rs777811940 |
403 | C>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 404 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348283891 rs1325463690 |
404 | M>V | No |
ClinGen gnomAD |
|
|
CA348283902 rs1435527762 |
405 | G>E | No |
ClinGen gnomAD |
|
|
CA1836007 rs140855509 |
408 | G>S | No |
ClinGen ESP ExAC |
|
|
rs779262246 CA1836008 |
409 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348283944 rs1246376084 |
411 | P>L | No |
ClinGen gnomAD |
|
|
CA1836010 rs772517584 |
414 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348283965 rs1335835565 |
415 | N>D | No |
ClinGen TOPMed |
|
|
CA348283969 rs1414886098 |
415 | N>I | No |
ClinGen TOPMed |
|
|
rs776173052 CA1836011 |
416 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1285893818 CA348284001 |
420 | S>T | No |
ClinGen gnomAD |
|
|
rs761275979 CA1836012 |
423 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1836014 rs772676810 |
425 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA348284042 rs1156786091 |
426 | C>S | No |
ClinGen TOPMed |
|
|
CA348284044 rs1188353298 |
426 | C>Y | No |
ClinGen gnomAD |
|
|
rs1469595033 CA348284061 |
428 | M>I | No |
ClinGen TOPMed |
|
|
rs1367898949 CA348284066 |
429 | P>S | No |
ClinGen gnomAD |
|
|
rs546806589 CA1836015 |
431 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1342789139 CA348284092 |
433 | F>S | No |
ClinGen gnomAD |
|
|
rs371323488 CA1836016 COSM1226010 |
434 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1836017 rs751466959 |
434 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1457600022 CA348284110 |
436 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1836018 rs759515767 |
438 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA348284122 rs759515767 |
438 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs7591371 CA53663793 |
441 | K>T | No |
ClinGen Ensembl |
|
|
CA53663801 rs540684988 |
442 | G>D | No |
ClinGen TOPMed |
|
|
rs1242821259 CA348284150 |
442 | G>S | No |
ClinGen TOPMed |
|
|
CA348284154 rs540684988 |
442 | G>V | No |
ClinGen TOPMed |
|
|
CA1836020 rs752704524 |
443 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 444 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756104481 CA1836021 |
444 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754000202 CA1836023 |
448 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA53663880 rs1048833347 |
453 | A>V | No |
ClinGen TOPMed |
|
|
CA1836025 rs779241578 |
456 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53663885 rs779241578 |
456 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348284254 rs1380106255 |
457 | K>E | No |
ClinGen TOPMed |
|
|
CA1836026 rs746267668 |
458 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA348284262 rs1190917458 |
458 | R>Q | No |
ClinGen gnomAD |
|
|
COSM3425117 CA1836027 rs772606473 |
460 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA348284313 rs1448444654 |
465 | T>S | No |
ClinGen TOPMed |
|
|
rs1256053493 CA348284333 |
468 | C>G | No |
ClinGen gnomAD |
|
|
rs199972774 CA1836029 |
469 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769131606 CA1836030 |
469 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA348284352 rs772919182 |
471 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1836031 rs772919182 |
471 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1836032 rs137900126 |
472 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 473 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs878944586 CA348284367 |
473 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA53663961 rs1020665246 |
474 | L>P | No |
ClinGen Ensembl |
|
|
rs1467374198 CA348284378 |
475 | H>R | No |
ClinGen gnomAD |
|
|
rs1574189882 CA348284376 |
475 | H>Y | No |
ClinGen Ensembl |
|
|
CA348284414 rs1393828749 |
480 | I>M | No |
ClinGen gnomAD |
|
|
rs1459036968 CA348284424 |
482 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1836034 rs774266731 |
483 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759204105 CA1836035 |
483 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1836033 rs770747583 |
483 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA348284442 rs1314367967 |
484 | V>G | No |
ClinGen gnomAD |
|
|
rs1286067913 CA348284438 |
484 | V>I | No |
ClinGen gnomAD |
|
|
CA348284451 rs1384805943 |
486 | A>T | No |
ClinGen TOPMed |
|
|
CA348284463 rs1234395946 |
487 | E>D | No |
ClinGen gnomAD |
|
|
CA1836036 rs767378891 |
488 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA1836037 rs767378891 |
488 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 493 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163282318 CA348284502 |
493 | R>S | No |
ClinGen gnomAD |
|
|
CA53663997 rs867440109 |
494 | K>R | No |
ClinGen Ensembl |
|
|
CA1836039 rs764066750 |
495 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA53664026 rs202246554 |
496 | S>G | No |
ClinGen 1000Genomes |
|
|
CA348284521 rs1180362659 |
496 | S>R | No |
ClinGen gnomAD |
|
|
rs1488901146 CA348284533 |
498 | G>S | No |
ClinGen TOPMed |
|
|
CA1836040 rs753981077 |
498 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA348284541 rs1288855746 |
499 | S>F | No |
ClinGen TOPMed |
|
|
CA1836041 rs757438670 |
500 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376330319 CA1836043 |
504 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1322313113 CA348284592 |
506 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA53664098 rs776031460 |
506 | Q>K | No |
ClinGen gnomAD |
|
|
CA1836045 rs780482482 |
507 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs747459559 CA1836046 |
509 | P>S | No |
ClinGen ExAC |
|
|
CA348284630 rs1305849584 |
512 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA53664106 rs201196105 |
512 | S>P | No |
ClinGen 1000Genomes |
|
|
rs1300949589 CA348284654 |
516 | Q>* | No |
ClinGen gnomAD |
|
|
CA348284662 rs1310958992 |
517 | F>V | No |
ClinGen gnomAD |
|
|
rs1341603040 CA348284715 |
525 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 529 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1836052 rs745537163 |
530 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA348284768 rs1170477021 |
533 | N>H | No |
ClinGen gnomAD |
|
|
CA348284772 rs1390688770 |
533 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs142437239 COSM3406791 CA1836056 |
535 | V>I | ovary Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs1322024978 CA348285421 |
537 | N>S | No |
ClinGen TOPMed |
|
|
CA348285444 rs1574190664 |
538 | A>V | No |
ClinGen Ensembl |
|
|
rs773409353 CA1836078 |
539 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231857122 CA348285449 |
539 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 540 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763055033 CA1836080 |
541 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA348285526 rs1464267721 |
545 | L>I | No |
ClinGen gnomAD |
|
|
CA348285585 rs1239105437 |
549 | Y>C | No |
ClinGen gnomAD |
|
|
CA1836083 rs759943275 |
552 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1574190712 CA348285639 |
554 | V>L | No |
ClinGen Ensembl |
|
|
rs377665017 CA1836085 |
559 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377665017 CA1836084 |
559 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 559 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399169809 CA348285719 |
560 | T>A | No |
ClinGen TOPMed |
|
|
CA53664638 rs182187263 |
560 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1836086 rs182187263 |
560 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348285745 rs749985118 |
562 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 562 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1836088 rs749985118 |
562 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574190744 CA348285781 |
564 | L>F | No |
ClinGen Ensembl |
|
|
rs1336774385 CA348285807 |
566 | L>F | No |
ClinGen gnomAD |
|
|
rs1336774385 CA348285803 |
566 | L>I | No |
ClinGen gnomAD |
|
|
CA348285810 rs1360222173 |
566 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs147689740 CA1836092 |
567 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1836093 rs781024720 |
570 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA348285885 rs1229313190 |
571 | G>V | No |
ClinGen gnomAD |
|
|
rs748074438 CA348285913 |
573 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA1836094 rs748074438 |
573 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs773142769 CA1836096 |
578 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574190820 CA348286009 |
578 | V>G | No |
ClinGen Ensembl |
|
|
rs773142769 CA348286007 |
578 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348286032 rs1379375745 |
579 | W>C | No |
ClinGen TOPMed |
|
|
rs1442880575 CA348286075 |
582 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 590 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1005608 rs1050491233 CA53664670 |
593 | P>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs774570059 CA1836099 |
594 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1836100 rs759853632 |
595 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA348286391 rs1388871873 |
598 | S>T | No |
ClinGen gnomAD |
|
|
rs1230271139 CA348286519 |
599 | G>D | No |
ClinGen gnomAD |
|
|
rs201598485 CA53665349 |
600 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1477896604 CA348286552 |
601 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1172368198 CA348286578 |
602 | I>F | No |
ClinGen gnomAD |
|
|
CA348286586 rs1574191449 |
603 | E>* | No |
ClinGen Ensembl |
|
|
rs1430515211 CA348286658 |
607 | A>S | No |
ClinGen gnomAD |
|
|
rs749190745 CA1836118 |
608 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs977865531 CA53665377 |
608 | L>R | No |
ClinGen TOPMed |
|
|
rs770988125 CA1836119 |
610 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA348286750 rs1331530156 |
612 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs552104775 CA1836120 |
612 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1436100089 CA348286760 |
613 | A>V | No |
ClinGen TOPMed |
|
|
CA348286781 rs1377976921 |
614 | S>L | No |
ClinGen TOPMed |
|
|
rs760782418 CA53665403 |
616 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA348286805 rs1177581519 |
616 | I>V | No |
ClinGen TOPMed |
|
|
rs1252338070 CA348286896 |
621 | S>G | No |
ClinGen TOPMed |
|
|
CA348287561 rs1195784160 |
627 | V>M | No |
ClinGen gnomAD |
|
|
CA348287575 rs1425680604 |
628 | G>D | No |
ClinGen gnomAD |
|
|
rs1190508814 CA348287588 |
629 | S>C | No |
ClinGen TOPMed |
|
|
rs769004651 CA1836145 |
635 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776917100 CA1836146 |
636 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs891087521 CA53666821 |
637 | R>Q | No |
ClinGen TOPMed |
|
|
COSM3670292 rs762352158 CA1836147 |
637 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA348287661 rs1574192959 |
638 | S>A | No |
ClinGen Ensembl |
|
|
CA53666824 rs553216163 |
638 | S>C | No |
ClinGen 1000Genomes |
|
|
CA53666831 rs140743522 |
639 | K>E | No |
ClinGen ESP |
|
| TCGA novel | 639 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348287678 rs1381339408 |
640 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 641 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268505591 CA348287731 |
644 | W>* | No |
ClinGen TOPMed |
|
|
rs752292041 CA1836152 |
645 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA348287740 rs1334175844 |
645 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA348287764 rs1354430466 |
647 | F>L | No |
ClinGen gnomAD |
|
|
CA348287770 rs1320654253 |
648 | R>C | No |
ClinGen TOPMed |
|
|
rs755784156 COSM164364 CA1836153 |
648 | R>H | Variant assessed as Somatic; 4.619e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 649 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763942880 CA1836154 |
652 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs998862364 CA53666873 |
658 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1053164629 CA53666877 |
660 | I>V | No |
ClinGen TOPMed |
|
|
rs1183681952 CA348287929 |
663 | V>I | No |
ClinGen gnomAD |
|
|
rs145135006 CA1836157 |
664 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1836156 rs572931531 |
664 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA53666887 rs1052406229 |
666 | A>V | No |
ClinGen Ensembl |
|
|
CA53666890 rs891144402 |
667 | A>V | No |
ClinGen gnomAD |
|
|
CA348287977 rs1484730537 |
668 | I>V | No |
ClinGen gnomAD |
|
|
CA1836158 rs151199405 |
671 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758486316 CA1836159 |
672 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1836160 rs780293278 |
675 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1158040820 CA348288104 |
676 | I>V | No |
ClinGen gnomAD |
|
|
rs1242385543 CA348288143 |
678 | R>S | No |
ClinGen TOPMed |
|
|
rs1362004058 CA348288151 |
679 | M>K | No |
ClinGen gnomAD |
|
|
CA348288162 rs1190133042 |
680 | M>R | No |
ClinGen TOPMed |
No associated diseases with Q8WUM9
No regional properties for Q8WUM9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8WUM9 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| high-affinity inorganic phosphate:sodium symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: HPO42-(out) + Na+(out) = HPO42-(in) + Na+(in). In high-affinity transport the transporter is able to bind the solute even if it is only present at very low concentrations. |
| inorganic phosphate transmembrane transporter activity | Enables the transfer of a inorganic phosphate from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy. Secondary active transporters include symporters and antiporters. |
| signaling receptor activity | Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. |
| sodium:phosphate symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + phosphate(out) = Na+(in) + phosphate(in). |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| biomineral tissue development | Formation of hard tissues that consist mainly of inorganic compounds, and also contain a small amounts of organic matrices that are believed to play important roles in their formation. |
| ion transport | The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| phosphate ion transmembrane transport | The process in which a phosphate is transported across a membrane. |
| phosphate-containing compound metabolic process | The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q95L97 | SLC20A2 | Sodium-dependent phosphate transporter 2 | Felis catus (Cat) (Felis silvestris catus) | PR |
| O97596 | Slc20a1 | Sodium-dependent phosphate transporter 1 | Felis catus (Cat) (Felis silvestris catus) | PR |
| Q08357 | SLC20A2 | Sodium-dependent phosphate transporter 2 | Homo sapiens (Human) | PR |
| Q61609 | Slc20a1 | Sodium-dependent phosphate transporter 1 | Mus musculus (Mouse) | PR |
| Q5BL44 | slc20a1 | Sodium-dependent phosphate transporter 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATLITSTTA | ATAASGPLVD | YLWMLILGFI | IAFVLAFSVG | ANDVANSFGT | AVGSGVVTLK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QACILASIFE | TVGSVLLGAK | VSETIRKGLI | DVEMYNSTQG | LLMAGSVSAM | FGSAVWQLVA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SFLKLPISGT | HCIVGATIGF | SLVAKGQEGV | KWSELIKIVM | SWFVSPLLSG | IMSGILFFLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RAFILHKADP | VPNGLRALPV | FYACTVGINL | FSIMYTGAPL | LGFDKLPLWG | TILISVGCAV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FCALIVWFFV | CPRMKRKIER | EIKCSPSESP | LMEKKNSLKE | DHEETKLSVG | DIENKHPVSE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VGPATVPLQA | VVEERTVSFK | LGDLEEAPER | ERLPSVDLKE | ETSIDSTVNG | AVQLPNGNLV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QFSQAVSNQI | NSSGHYQYHT | VHKDSGLYKE | LLHKLHLAKV | GDCMGDSGDK | PLRRNNSYTS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YTMAICGMPL | DSFRAKEGEQ | KGEEMEKLTW | PNADSKKRIR | MDSYTSYCNA | VSDLHSASEI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DMSVKAEMGL | GDRKGSNGSL | EEWYDQDKPE | VSLLFQFLQI | LTACFGSFAH | GGNDVSNAIG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PLVALYLVYD | TGDVSSKVAT | PIWLLLYGGV | GICVGLWVWG | RRVIQTMGKD | LTPITPSSGF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SIELASALTV | VIASNIGLPI | STTHCKVGSV | VSVGWLRSKK | AVDWRLFRNI | FMAWFVTVPI |
| 670 | |||||
| SGVISAAIMA | IFRYVILRM |