Q9UPI3
PR
Gene name |
FLVCR2 (C14orf58) |
Protein name |
Feline leukemia virus subgroup C receptor-related protein 2 |
Names |
Calcium-chelate transporter, CCT |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55640 |
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 Q9UPI3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UPI3-F1 | Predicted | AlphaFoldDB |
436 variants for Q9UPI3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000081864 RCV000326404 VAR_018271 RCV001701741 RCV001682783 rs2287015 CA148899 |
16 | V>A | Posterior column ataxia-retinitis pigmentosa syndrome Fowler syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs768707435 CA7278146 RCV000383377 |
26 | S>R | Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7278165 rs372243784 RCV000272925 |
55 | P>L | Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_064410 | 84 | R>H | PVHH [UniProt] | Yes | UniProt |
|
RCV001118539 CA7278186 rs767398242 |
93 | C>R | Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7278189 rs199805789 RCV002522332 RCV000320971 |
96 | M>V | Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs746459536 RCV000001146 RCV000778098 VAR_064411 |
110 | N>I | Posterior column ataxia-retinitis pigmentosa syndrome Fowler syndrome PVHH [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV000826106 rs1594785775 |
131 | M>missing | Fowler syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000023841 CA7278205 rs759296326 |
134 | Y>* | Fowler syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002522333 CA7278211 RCV000343023 rs193042691 |
141 | V>M | Posterior column ataxia-retinitis pigmentosa syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs138495705 RCV000001148 CA114747 |
158 | S>* | Fowler syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA10646186 rs886050786 RCV000280822 |
202 | A>T | Posterior column ataxia-retinitis pigmentosa syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001120065 rs146668840 CA7278290 |
243 | R>W | Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3744451 rs559975316 RCV002558189 RCV001120066 CA7278297 |
256 | I>V | Posterior column ataxia-retinitis pigmentosa syndrome liver Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003151235 RCV001120067 CA7278334 rs45479302 RCV000954477 |
279 | P>S | Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000778099 RCV000001149 VAR_064043 CA114749 rs267606823 |
280 | P>R | Posterior column ataxia-retinitis pigmentosa syndrome Fowler syndrome PVHH [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002520923 rs183200579 CA7278351 RCV000312386 |
302 | A>D | Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000350901 rs779117746 CA7278358 |
316 | T>S | Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs267606824 VAR_064412 RCV000001150 CA114750 |
326 | A>V | Fowler syndrome Variant assessed as Somatic; impact. PVHH [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001120376 rs757778790 RCV000171224 CA235910 COSM957996 |
333 | R>H | Posterior column ataxia-retinitis pigmentosa syndrome Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001334949 rs750773606 CA7278404 RCV002546708 |
340 | P>L | Fowler syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_064413 | 352 | T>R | PVHH [UniProt] | Yes | UniProt |
|
RCV000778411 rs779784201 |
386 | L>missing | Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_064044 RCV000001147 CA114746 rs267606822 |
398 | L>V | Fowler syndrome PVHH [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
| VAR_064414 | 412 | G>R | PVHH [UniProt] | Yes | UniProt |
|
rs267606825 CA7278510 RCV000626319 VAR_064415 |
430 | T>M | Fowler syndrome PVHH [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA114745 rs267606825 VAR_064045 RCV000001145 |
430 | T>R | Fowler syndrome PVHH [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs35126362 RCV000947581 CA7278553 VAR_050299 RCV000363359 |
481 | A>T | Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7278570 RCV002522334 RCV000271118 rs139495418 |
492 | R>W | Posterior column ataxia-retinitis pigmentosa syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA390463797 RCV000778413 rs1566799795 |
527 | L>C | Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1566799791 CA390463796 RCV000778412 |
527 | L>L | Posterior column ataxia-retinitis pigmentosa syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390444777 rs1448734063 |
3 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs761114230 CA7278133 |
3 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 4 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390444785 rs1189605736 |
4 | E>Q | No |
ClinGen gnomAD |
|
|
rs1166646438 CA390444813 |
5 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs980065536 CA263673351 |
6 | P>L | No |
ClinGen TOPMed |
|
|
CA263673359 rs927307658 |
7 | N>I | No |
ClinGen TOPMed |
|
|
rs1352796033 CA390444845 |
8 | Q>* | No |
ClinGen gnomAD |
|
|
CA7278134 rs764747260 |
10 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463638395 CA390444887 |
10 | E>G | No |
ClinGen gnomAD |
|
|
CA390444895 rs752434981 |
11 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA390444904 CA390444906 rs1439145812 |
11 | S>R | No |
ClinGen gnomAD |
|
|
rs752434981 CA7278135 |
11 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs762529776 CA390444955 |
14 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762529776 CA7278136 |
14 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751540374 CA7278137 |
17 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751540374 CA390444984 |
17 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757198109 CA7278138 |
18 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204653243 CA390445014 |
19 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1204653243 CA390445012 |
19 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7278140 rs750140841 |
20 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278141 rs371981338 |
22 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 22 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390445078 rs1464297176 |
24 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749569624 CA7278145 |
25 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1430450136 CA390445113 |
26 | S>G | No |
ClinGen Ensembl |
|
|
rs1421619095 CA390445120 |
26 | S>T | No |
ClinGen gnomAD |
|
|
CA263673396 rs1035510024 |
31 | P>A | No |
ClinGen gnomAD |
|
|
CA390445209 rs1328215582 |
32 | S>T | No |
ClinGen gnomAD |
|
|
COSM1371175 rs772508772 CA7278149 |
33 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs143304751 CA7278153 |
35 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7278152 COSM2138654 rs143304751 |
35 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs762762330 CA7278154 |
36 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA390445281 rs763845250 |
37 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278157 rs763845250 |
37 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390445308 rs1311312192 |
39 | V>F | No |
ClinGen gnomAD |
|
|
rs751059938 CA7278159 |
43 | P>T | No |
ClinGen ExAC |
|
|
CA263673441 rs1013248578 |
45 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 47 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369546881 CA390445464 |
49 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390445475 rs1181215511 |
49 | P>L | No |
ClinGen gnomAD |
|
|
CA7278163 rs369546881 |
49 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148295074 CA7278164 |
51 | S>I | No |
ClinGen ESP ExAC TOPMed |
|
|
CA263673455 rs868407513 |
53 | A>V | No |
ClinGen Ensembl |
|
|
CA390445611 rs1255512651 |
55 | P>T | No |
ClinGen gnomAD |
|
|
rs977013723 CA263673467 |
56 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs866125866 CA263673470 |
58 | L>S | No |
ClinGen Ensembl |
|
|
CA263673473 rs867831725 |
59 | A>V | No |
ClinGen Ensembl |
|
|
rs201465626 CA263673478 CA390445711 |
60 | Q>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA390445748 rs1347330369 |
62 | S>R | No |
ClinGen gnomAD |
|
|
rs1594785626 CA390445764 |
63 | G>A | No |
ClinGen Ensembl |
|
|
rs779118790 CA7278170 |
64 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA390445811 rs1352964095 |
65 | A>V | No |
ClinGen gnomAD |
|
|
rs1293523194 CA390445822 |
66 | H>Y | No |
ClinGen gnomAD |
|
|
CA390445835 rs1328125172 |
67 | P>S | No |
ClinGen gnomAD |
|
|
CA7278171 rs748176627 |
68 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs772224570 CA7278172 |
68 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA390445900 rs1348183027 |
70 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 73 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778121578 CA7278174 |
75 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA263673502 rs778121578 |
75 | L>V | No |
ClinGen ExAC TOPMed |
|
|
CA7278175 rs747609883 |
77 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs910691454 CA263673514 |
79 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1244948459 CA390446073 |
80 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 81 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7278176 rs771197984 |
82 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776989665 CA7278177 |
83 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7278178 rs534378451 |
84 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390446186 rs1175949175 |
85 | W>C | No |
ClinGen gnomAD |
|
|
CA7278180 rs774182457 |
85 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA263673527 COSM1371177 rs974055927 |
86 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs767100730 CA7278182 |
87 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7278181 rs761378974 |
87 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554375071 CA263673533 |
88 | V>L | No |
ClinGen 1000Genomes |
|
|
rs1312894639 CA390446238 |
89 | L>V | No |
ClinGen gnomAD |
|
|
rs760729048 CA7278184 |
92 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs766229026 CA7278185 |
92 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1039346751 CA263673547 |
93 | C>F | No |
ClinGen TOPMed |
|
|
rs754787609 CA7278187 |
95 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA7278190 rs577391321 |
96 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1267050526 CA390446411 |
97 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1437346931 CA390446414 |
97 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1202634824 CA390446425 |
98 | N>D | No |
ClinGen gnomAD |
|
|
CA390446431 rs1234861430 |
98 | N>I | No |
ClinGen gnomAD |
|
|
rs777976911 CA7278191 |
99 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7278192 rs141436449 |
100 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757726589 CA7278193 |
101 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA390446499 rs1455913960 |
103 | I>S | No |
ClinGen gnomAD |
|
|
rs1369352060 CA390446515 |
104 | Q>H | No |
ClinGen gnomAD |
|
|
CA390446530 rs746197249 |
105 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA263673572 rs1000756162 |
105 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA390446550 rs1330441928 |
107 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA390446554 rs770326592 |
108 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278196 rs770326592 |
108 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278199 rs774129174 |
113 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594785731 CA390446658 |
115 | F>L | No |
ClinGen Ensembl |
|
|
rs747858143 CA7278200 |
115 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1234880261 CA390446668 |
116 | Y>C | No |
ClinGen gnomAD |
|
|
CA7278201 rs771474283 |
117 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA390446680 rs1296810796 |
117 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390446687 rs1355045010 |
118 | V>I | No |
ClinGen TOPMed |
|
|
rs1212923964 CA390446716 |
120 | A>G | No |
ClinGen gnomAD |
|
|
CA7278202 rs147535419 |
122 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA263673593 rs758888318 |
123 | I>T | No |
ClinGen Ensembl |
|
|
rs8011292 CA390446780 |
126 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs576346288 CA7278203 |
126 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs576346288 CA263673599 |
126 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1298944393 CA390446789 |
127 | S>A | No |
ClinGen TOPMed |
|
|
CA390446786 rs1298944393 |
127 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 128 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390446796 rs1470128018 |
128 | M>L | No |
ClinGen gnomAD |
|
|
rs776580991 CA7278204 |
130 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373052194 CA390446849 |
131 | M>R | No |
ClinGen gnomAD |
|
|
rs1594785782 CA390446864 |
133 | T>A | No |
ClinGen Ensembl |
|
|
CA7278206 rs765074563 |
135 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs758581873 CA7278208 |
136 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA390446924 rs1441429235 |
138 | L>P | No |
ClinGen gnomAD |
|
|
rs781757236 CA7278212 |
141 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs746430186 CA7278213 |
142 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7278214 rs80189131 |
143 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs749615767 CA7278216 |
145 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA263673647 rs992079942 |
146 | E>G | No |
ClinGen Ensembl |
|
|
CA7278217 rs144104603 |
146 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA263673652 rs111230533 |
149 | G>S | No |
ClinGen Ensembl |
|
|
CA7278218 rs772760601 |
149 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA263673664 rs796997254 |
151 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA263673667 rs199985828 |
151 | R>H | No |
ClinGen 1000Genomes gnomAD |
|
|
rs199985828 CA390447129 |
151 | R>P | No |
ClinGen 1000Genomes gnomAD |
|
|
CA390447135 rs1594785828 |
152 | T>P | No |
ClinGen Ensembl |
|
|
CA390447149 rs1594785830 |
153 | I>L | No |
ClinGen Ensembl |
|
|
rs1474322843 CA390447156 |
153 | I>T | No |
ClinGen TOPMed |
|
|
rs1195957007 CA390447167 |
154 | A>T | No |
ClinGen gnomAD |
|
|
rs746487506 CA7278219 |
156 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA390447208 rs1248168914 |
156 | T>N | No |
ClinGen TOPMed |
|
|
rs1162318168 CA390447214 |
157 | G>D | No |
ClinGen gnomAD |
|
|
COSM1165485 CA7278220 rs138495705 |
158 | S>L | lung oesophagus large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1157723040 CA390447261 |
159 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs202224246 CA7278223 |
159 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1383810834 CA390447311 |
161 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 165 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390447420 rs1327081203 |
165 | A>V | No |
ClinGen gnomAD |
|
|
CA390447472 rs1594785864 |
167 | V>G | No |
ClinGen Ensembl |
|
|
rs762680015 CA7278225 |
168 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA390447494 rs764338702 |
169 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594785869 CA390447521 |
170 | G>A | No |
ClinGen Ensembl |
|
|
rs1287530082 CA390447506 |
170 | G>S | No |
ClinGen Ensembl |
|
|
CA390447550 rs1234141170 |
171 | S>R | No |
ClinGen gnomAD |
|
|
rs767768620 CA263673680 |
174 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278230 rs767768620 |
174 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278229 rs761933931 |
174 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA390447693 rs1285632243 |
178 | P>A | No |
ClinGen gnomAD |
|
|
rs904423362 CA263673688 |
178 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 178 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7278234 rs754180215 |
181 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA390447774 rs1475293310 |
181 | V>M | No |
ClinGen gnomAD |
|
|
rs1455201671 CA390447815 |
183 | G>S | No |
ClinGen gnomAD |
|
|
CA7278239 rs745397662 |
186 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA7278238 rs780614107 |
186 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1396781510 CA390447962 |
191 | Q>R | No |
ClinGen gnomAD |
|
|
rs1306585397 CA390447972 |
192 | V>I | No |
ClinGen gnomAD |
|
|
rs769671547 CA7278240 |
194 | I>V | No |
ClinGen ExAC |
|
| TCGA novel | 196 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390448057 rs1280643870 |
197 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA390448059 rs1347864878 COSM3690205 |
197 | M>T | large_intestine Variant assessed as Somatic; 4.641e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7278241 rs775323481 |
199 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1281795915 CA390448096 |
200 | R>C | No |
ClinGen gnomAD |
|
|
CA390448124 rs1566779720 |
201 | I>M | No |
ClinGen Ensembl |
|
|
CA7278242 rs762781479 |
202 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA390448178 rs1477554206 |
204 | V>D | No |
ClinGen TOPMed |
|
|
rs185687959 CA7278244 |
204 | V>I | No |
ClinGen 1000Genomes ExAC |
|
|
rs1182334097 CA390448190 |
205 | W>* | No |
ClinGen gnomAD |
|
|
CA390448202 rs1394271295 |
205 | W>C | No |
ClinGen gnomAD |
|
|
rs762188421 CA7278245 CA7278246 |
207 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750469090 CA7278247 |
209 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs903634353 CA263673725 |
210 | E>K | No |
ClinGen TOPMed |
|
|
rs77057638 CA263673728 |
213 | T>P | No |
ClinGen Ensembl |
|
|
CA390448367 rs1297790777 |
214 | A>V | No |
ClinGen gnomAD |
|
|
CA390448375 rs1394690517 |
215 | C>G | No |
ClinGen gnomAD |
|
|
rs750479256 CA7278249 |
216 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1232681321 CA390448406 CA390448403 |
217 | V>L | No |
ClinGen gnomAD |
|
|
rs1306336619 CA390448456 |
220 | F>S | No |
ClinGen gnomAD |
|
|
CA263673735 rs1017805128 |
221 | G>R | No |
ClinGen Ensembl |
|
|
rs756846296 CA7278253 |
222 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs142691178 RCV000925566 CA7278280 |
224 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1594807275 CA390454834 |
225 | G>R | No |
ClinGen Ensembl |
|
|
CA390454858 rs1232685831 |
226 | I>F | No |
ClinGen gnomAD |
|
|
CA390454863 rs1463645822 |
226 | I>T | No |
ClinGen TOPMed |
|
|
CA263670028 rs970503705 COSM172935 |
227 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs201694155 CA7278283 |
228 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs528959327 CA7278284 |
229 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs528959327 CA7278285 |
229 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7278286 rs776019370 |
231 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210077843 CA390454953 |
231 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390454989 rs1200897775 |
233 | P>R | No |
ClinGen gnomAD |
|
|
CA390455054 rs1484746989 |
237 | V>A | No |
ClinGen gnomAD |
|
|
rs112225143 CA7278287 |
239 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390455104 rs1190271591 |
240 | I>T | No |
ClinGen gnomAD |
|
|
rs764503213 CA7278289 |
241 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390455146 rs1594807317 |
242 | D>A | No |
ClinGen Ensembl |
|
|
CA263670096 rs1038722958 |
243 | R>P | No |
ClinGen gnomAD |
|
|
COSM957993 rs1038722958 CA390455164 |
243 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA390455185 rs755659814 |
244 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778286255 CA390455194 |
245 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs778286255 CA263670105 |
245 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs778286255 CA390455192 |
245 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA390455232 rs1047558362 |
247 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA263670112 rs1047558362 |
247 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753241725 CA7278293 |
248 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1397428185 CA390455265 |
249 | H>Y | No |
ClinGen TOPMed |
|
|
rs754550043 CA7278294 |
250 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA390455354 rs1299600549 |
253 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs778687707 CA7278295 |
253 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377400493 CA390455374 |
254 | F>C | No |
ClinGen gnomAD |
|
|
rs1345781311 CA390455418 |
256 | I>T | No |
ClinGen gnomAD |
|
|
rs1388537582 CA390455426 |
257 | I>M | No |
ClinGen gnomAD |
|
|
rs777778310 CA7278298 |
257 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA390455437 rs1477606584 |
259 | G>A | No |
ClinGen TOPMed |
|
|
CA7278300 rs745502188 |
260 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs745502188 CA7278301 |
260 | V>M | No |
ClinGen ExAC TOPMed |
|
|
rs1048710646 CA263670165 |
263 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA263670176 rs886129233 |
264 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7278305 rs200898385 |
265 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390455471 rs1251750274 |
266 | I>V | No |
ClinGen gnomAD |
|
|
CA7278306 rs375861152 |
267 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7278307 rs774645285 |
268 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA390455488 rs1344845805 |
269 | I>V | No |
ClinGen TOPMed |
|
|
CA7278308 rs762264346 |
270 | I>T | No |
ClinGen ExAC |
|
|
CA390455702 rs1267502395 |
271 | V>A | No |
ClinGen gnomAD |
|
|
CA390455727 rs1219076223 |
274 | E>D | No |
ClinGen TOPMed |
|
|
rs762582397 CA7278331 |
275 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA263671295 rs140376675 |
276 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA7278332 rs764090692 |
277 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA263671300 rs1002671408 |
277 | K>Q | No |
ClinGen TOPMed |
|
|
CA7278335 rs756986802 |
279 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1358930421 CA390455759 |
280 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1358930421 CA390455758 |
280 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1248363001 CA390455775 |
282 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7278338 rs780280916 |
282 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs201446263 CA263671343 |
283 | A>V | No |
ClinGen 1000Genomes |
|
|
rs779372723 CA7278341 |
288 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs748748670 CA7278343 |
289 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748748670 CA263671358 |
289 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748748670 CA7278342 |
289 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773560360 CA390455853 COSM3420046 |
290 | L>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA390455906 rs1157924253 |
294 | D>E | No |
ClinGen gnomAD |
|
|
CA263671365 COSM957995 rs201655143 |
294 | D>G | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA390455915 rs1382772138 |
295 | A>P | No |
ClinGen gnomAD |
|
|
rs747347369 CA7278345 |
296 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA7278346 rs140848651 |
297 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390455929 rs1300039596 |
297 | Y>H | No |
ClinGen gnomAD |
|
|
rs1189034212 CA390455944 |
299 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7278347 rs775321790 |
301 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7278350 rs763752990 |
302 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278349 rs763752990 |
302 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278352 rs199824003 |
303 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390455974 rs1349096011 |
303 | R>W | No |
ClinGen gnomAD |
|
|
CA390456038 rs1485071935 |
305 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1208251618 CA390456102 |
308 | L>I | No |
ClinGen gnomAD |
|
|
CA7278354 rs755939090 |
308 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390456183 rs766560435 |
310 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA390456188 rs1180750598 |
311 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7278356 rs754112208 |
312 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7278357 rs755039881 |
315 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566793098 CA390456338 |
317 | Y>C | No |
ClinGen Ensembl |
|
|
rs748183108 CA7278359 |
317 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1301316045 CA390456363 |
318 | G>C | No |
ClinGen gnomAD |
|
|
CA390458760 rs1457641129 |
321 | A>T | No |
ClinGen gnomAD |
|
|
CA390458862 rs1240644860 |
327 | L>F | No |
ClinGen gnomAD |
|
|
rs765459389 CA7278396 |
327 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs138853227 CA7278397 |
328 | S>P | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1321966148 CA390458886 |
329 | T>A | No |
ClinGen TOPMed |
|
|
CA7278398 rs763074367 |
329 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278400 rs764144834 |
333 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390458941 rs764144834 |
333 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757778790 CA390458949 |
333 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757778790 CA390458947 |
333 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764144834 CA7278399 |
333 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278401 rs755604627 |
334 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111529038 CA263675830 |
334 | M>V | No |
ClinGen Ensembl |
|
|
RCV000482956 rs759469907 |
337 | W>missing | No |
ClinVar dbSNP |
|
|
rs1555377297 CA7278402 |
337 | W>R | No |
ClinGen Ensembl |
|
|
rs1050918092 CA390459038 |
340 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1050918092 CA263675853 |
340 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs757932378 CA7278426 |
342 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs753169871 CA7278428 |
349 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278429 rs756801283 |
350 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs201009135 CA7278431 |
352 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs749127764 CA7278435 |
354 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278436 rs187350033 |
355 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390459365 rs1415947098 |
356 | A>E | No |
ClinGen gnomAD |
|
|
CA390459409 rs1298744108 |
359 | L>P | No |
ClinGen TOPMed |
|
|
rs1405896779 CA390459413 |
360 | G>R | No |
ClinGen gnomAD |
|
|
rs1013080523 CA263676441 |
361 | A>P | No |
ClinGen TOPMed |
|
|
rs1013080523 CA263676446 |
361 | A>T | No |
ClinGen TOPMed |
|
|
CA7278437 rs774751082 |
362 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278438 rs774751082 |
362 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278439 rs767767071 |
363 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390459463 rs1175302622 |
364 | S>P | No |
ClinGen TOPMed |
|
|
CA390459495 rs1244586124 |
366 | I>T | No |
ClinGen gnomAD |
|
|
CA7278442 rs766924967 |
367 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs761024466 CA7278441 |
367 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1566796062 CA390459547 |
370 | R>G | No |
ClinGen Ensembl |
|
|
CA390459550 rs1435056201 |
370 | R>K | No |
ClinGen TOPMed |
|
|
rs147025339 CA7278444 |
371 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7278445 rs763705499 |
372 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs369882008 CA7278446 |
373 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369882008 CA390459602 |
373 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs191737807 CA263676494 |
374 | Y>H | No |
ClinGen 1000Genomes |
|
|
rs1204369003 CA390460486 |
375 | K>N | No |
ClinGen TOPMed |
|
|
CA7278466 rs767177733 |
377 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA390460542 rs1594815978 |
380 | V>I | No |
ClinGen Ensembl |
|
|
rs867039266 CA263678797 |
382 | Y>C | No |
ClinGen Ensembl |
|
|
CA263678795 rs867039266 |
382 | Y>S | No |
ClinGen Ensembl |
|
|
rs749857475 CA7278469 |
383 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390460606 rs1566797470 |
384 | M>I | No |
ClinGen Ensembl |
|
|
rs918705243 CA263678806 |
387 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs376699157 CA7278474 |
388 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376699157 CA390460660 |
388 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376795690 CA390460671 |
389 | M>T | No |
ClinGen TOPMed |
|
|
rs754820913 CA7278475 |
389 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 390 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138308850 CA7278476 |
391 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1452689535 CA390460714 |
392 | Y>C | No |
ClinGen TOPMed |
|
|
CA7278477 rs747973190 |
393 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345435680 CA390460791 |
397 | N>K | No |
ClinGen gnomAD |
|
|
CA263678822 rs780756493 |
397 | N>T | No |
ClinGen Ensembl |
|
|
CA7278478 rs772372525 |
400 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 401 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7278480 rs747028559 |
402 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs747028559 CA390460857 |
402 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs771092451 CA7278481 |
404 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390460888 rs771092451 |
404 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776998989 CA7278482 |
406 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA7278485 rs775782239 |
411 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1003429541 CA263678875 |
412 | G>D | No |
ClinGen Ensembl |
|
|
CA390462109 rs1208081739 |
413 | F>C | No |
ClinGen gnomAD |
|
|
CA390462105 rs1208081739 |
413 | F>Y | No |
ClinGen gnomAD |
|
|
CA7278499 rs758308348 |
416 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278501 rs377431432 |
421 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7278502 rs771061287 |
424 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781273864 CA7278503 |
425 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745968780 CA7278504 |
426 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256485113 CA390462300 |
427 | V>L | No |
ClinGen TOPMed |
|
|
CA7278507 rs749626265 |
429 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7278508 rs144063634 |
430 | T>A | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 433 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200557989 CA263679751 |
433 | E>Q | No |
ClinGen Ensembl |
|
|
CA263679777 rs371259222 |
436 | G>V | No |
ClinGen ESP |
|
|
CA7278513 rs776236131 |
438 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs752732384 CA7278516 |
440 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 441 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7278519 rs763881648 |
443 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278518 rs763881648 |
443 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278520 rs757452197 |
444 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757452197 CA7278521 |
444 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489399558 CA390462546 |
445 | S>P | No |
ClinGen gnomAD |
|
|
rs1379063731 CA390462563 |
446 | A>S | No |
ClinGen TOPMed |
|
|
CA390462575 rs374732067 |
447 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7278523 rs374732067 |
447 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750698284 CA7278541 |
451 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390462695 rs1357185216 |
452 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7278543 rs780045091 |
455 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749343181 CA7278544 |
456 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390462778 rs755468465 |
458 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278545 rs755468465 |
458 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA263680009 rs370583425 |
460 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA263680031 rs1021696788 |
464 | Y>C | No |
ClinGen TOPMed |
|
|
rs1310796383 CA390462915 |
466 | T>I | No |
ClinGen gnomAD |
|
|
rs772371502 CA7278549 |
467 | K>N | No |
ClinGen ExAC |
|
|
CA390462981 rs1264148841 |
471 | I>V | No |
ClinGen gnomAD |
|
|
rs1457680057 CA390463033 |
474 | C>F | No |
ClinGen gnomAD |
|
|
CA7278551 rs745584677 |
475 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA390463129 rs1422546394 |
481 | A>V | No |
ClinGen gnomAD |
|
|
CA7278554 rs111665819 |
482 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747398969 CA7278569 |
487 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390463504 rs766061843 |
492 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278571 rs766061843 |
492 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340296269 CA390463524 |
495 | K>R | No |
ClinGen gnomAD |
|
|
CA390463528 rs1228279152 |
496 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 497 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768105596 CA7278573 |
498 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1232406902 CA390463544 |
498 | K>T | No |
ClinGen TOPMed |
|
|
CA390463549 rs1272290953 |
499 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA263680484 rs1039465850 |
500 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 504 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 506 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384346045 CA390463639 |
509 | E>K | No |
ClinGen gnomAD |
|
|
rs1300221700 CA390463658 |
511 | E>* | No |
ClinGen TOPMed |
|
|
rs1245996851 CA390463686 |
514 | T>A | No |
ClinGen gnomAD |
|
|
CA390463687 rs747682049 |
514 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747682049 CA7278599 |
514 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7278600 rs372273817 |
516 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1206551738 CA390463703 |
516 | K>T | No |
ClinGen gnomAD |
|
|
CA390463712 rs1441676989 |
517 | V>G | No |
ClinGen gnomAD |
|
|
rs1284668816 CA390463711 |
517 | V>L | No |
ClinGen gnomAD |
|
|
CA390463722 rs1244957459 |
518 | P>H | No |
ClinGen gnomAD |
|
|
CA390463740 rs1445183679 |
520 | A>V | No |
ClinGen gnomAD |
|
|
CA7278602 rs746788772 |
521 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA390463757 rs1379786049 |
522 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1439304861 CA390463761 |
523 | E>Q | No |
ClinGen TOPMed |
|
|
CA7278603 rs770770639 |
524 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1160551492 CA390463780 |
525 | H>P | No |
ClinGen gnomAD |
|
|
CA390463782 rs1160551492 |
525 | H>R | No |
ClinGen gnomAD |
|
|
rs776908164 CA7278604 |
526 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs776908164 CA7278605 |
526 | L>R | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9UPI3
[MIM: 225790]: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH)
A rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue. {ECO:0000269|PubMed:20206334, ECO:0000269|PubMed:20518025, ECO:0000269|PubMed:20690116}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue. {ECO:0000269|PubMed:20206334, ECO:0000269|PubMed:20518025, ECO:0000269|PubMed:20690116}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q9UPI3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Major facilitator superfamily domain | 87 - 492 | IPR020846 |
Functions
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| heme binding | Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring. |
| heme transmembrane transporter activity | Enables the transfer of heme from one side of a membrane to the other. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| heme export | The directed movement of heme out of a cell or organelle. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9Y5Y0 | FLVCR1 | Feline leukemia virus subgroup C receptor-related protein 1 | Homo sapiens (Human) | PR |
| Q91X85 | Flvcr2 | Feline leukemia virus subgroup C receptor-related protein 2 | Mus musculus (Mouse) | PR |
| P60815 | Flvcr2 | Feline leukemia virus subgroup C receptor-related protein 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVNEGPNQEE | SDDTPVPESA | LQADPSVSVH | PSVSVHPSVS | INPSVSVHPS | SSAHPSALAQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PSGLAHPSSS | GPEDLSVIKV | SRRRWAVVLV | FSCYSMCNSF | QWIQYGSINN | IFMHFYGVSA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FAIDWLSMCY | MLTYIPLLLP | VAWLLEKFGL | RTIALTGSAL | NCLGAWVKLG | SLKPHLFPVT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VVGQLICSVA | QVFILGMPSR | IASVWFGANE | VSTACSVAVF | GNQLGIAIGF | LVPPVLVPNI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EDRDELAYHI | SIMFYIIGGV | ATLLLILVII | VFKEKPKYPP | SRAQSLSYAL | TSPDASYLGS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IARLFKNLNF | VLLVITYGLN | AGAFYALSTL | LNRMVIWHYP | GEEVNAGRIG | LTIVIAGMLG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AVISGIWLDR | SKTYKETTLV | VYIMTLVGMV | VYTFTLNLGH | LWVVFITAGT | MGFFMTGYLP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LGFEFAVELT | YPESEGISSG | LLNISAQVFG | IIFTISQGQI | IDNYGTKPGN | IFLCVFLTLG |
| 490 | 500 | 510 | 520 | ||
| AALTAFIKAD | LRRQKANKET | LENKLQEEEE | ESNTSKVPTA | VSEDHL |