P41440
PR
Gene name |
SLC19A1 |
Protein name |
Reduced folate transporter |
Names |
FOLT, Cyclic dinucleotide:anion antiporter SLC19A1, Folate:anion antiporter SLC19A1, Intestinal folate carrier 1, IFC-1, Placental folate transporter, Reduced folate carrier protein, RFC, hRFC, Reduced folate transporter 1, RFT-1, Solute carrier family 19 member 1, hSLC19A1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6573 |
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
14 structures for P41440
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7TX6 | EM | 330 A | PDB | ||
| 7TX7 | EM | 380 A | PDB | ||
| 7XPZ | EM | 340 A | A | 1-506 | PDB |
| 7XQ0 | EM | 300 A | A | 1-506 | PDB |
| 7XQ1 | EM | 340 A | A | 1-506 | PDB |
| 7XQ2 | EM | 330 A | A | 1-506 | PDB |
| 7XTK | EM | 289 A | A | 1-591 | PDB |
| 8DEP | EM | 360 A | PDB | ||
| 8GOE | EM | 300 A | A | 1-506 | PDB |
| 8GOF | EM | 300 A | A | 1-506 | PDB |
| 8HII | EM | 357 A | A | 24-591 | PDB |
| 8HIJ | EM | 354 A | A | 24-591 | PDB |
| 8HIK | EM | 372 A | A | 24-591 | PDB |
| AF-P41440-F1 | Predicted | AlphaFoldDB |
580 variants for P41440
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA170984 RCV001788041 VAR_020210 rs1051266 RCV000144916 RCV002055868 |
27 | H>R | Gastrointestinal stromal tumor (gist) Gastrointestinal stromal tumor [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_085516 rs757838708 |
212 | F>missing | MEGAF; loss of cellular uptake of folates, including methotrexate [UniProt] | Yes |
UniProt dbSNP |
|
VAR_085516 rs757838708 |
212 | F>del | MEGAF; loss of cellular uptake of folates, including methotrexate [UniProt] | Yes |
UniProt dbSNP |
|
rs769947133 CA10068764 |
2 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1160559789 CA410511333 |
3 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10068763 rs745995648 |
5 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1321094603 CA410511315 |
6 | P>R | No |
ClinGen TOPMed |
|
|
rs781242771 CA10068762 |
7 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563946365 CA321946503 |
8 | V>M | No |
ClinGen gnomAD |
|
|
CA410511300 rs1240157420 |
9 | E>A | No |
ClinGen gnomAD |
|
|
rs1214901350 CA410511291 |
10 | K>R | No |
ClinGen gnomAD |
|
|
CA410511286 rs1488594404 |
11 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA321946492 CA410511266 rs527506690 |
14 | V>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA410511267 rs527506690 |
14 | V>M | No |
ClinGen 1000Genomes TOPMed |
|
|
CA10068760 rs751302757 |
17 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410511248 rs1473140778 |
17 | G>R | No |
ClinGen TOPMed |
|
|
rs751302757 CA410511244 |
17 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372174767 CA10068758 |
18 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372174767 CA10068759 |
18 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752578285 CA410511232 |
19 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759012367 CA10068756 |
20 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759012367 CA10068755 |
20 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs765932315 CA10068753 |
21 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760315143 CA10068752 |
22 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA410511213 rs769024844 |
23 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA10068750 rs769024844 |
23 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10068751 rs772742675 |
23 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384832547 CA410511208 |
24 | S>F | No |
ClinGen gnomAD |
|
|
rs763434303 CA10068749 |
25 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571709945 CA321946412 |
26 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10068748 rs146545683 |
26 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410511193 rs1051266 |
27 | H>P | Gastrointestinal stromal tumor (gist) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1265295408 CA410511190 |
27 | H>Q | No |
ClinGen gnomAD |
|
|
rs770465381 CA10068747 |
27 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10068745 rs370529151 |
29 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368296368 CA321946390 |
30 | C>Y | No |
ClinGen ESP |
|
|
CA410511154 rs1305433078 |
33 | C>Y | No |
ClinGen gnomAD |
|
|
rs1235973823 CA410511142 |
34 | F>L | No |
ClinGen gnomAD |
|
|
CA410511133 rs1218455567 |
36 | G>S | No |
ClinGen gnomAD |
|
|
rs1341679160 CA410511105 |
39 | A>V | No |
ClinGen gnomAD |
|
|
CA410511101 rs1403655126 |
40 | Q>P | No |
ClinGen gnomAD |
|
|
CA410511090 rs1459594243 |
41 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA410511092 rs1294227526 |
41 | I>T | No |
ClinGen gnomAD |
|
|
CA410511094 rs1483096861 |
41 | I>V | No |
ClinGen TOPMed |
|
|
rs1353024617 CA410511088 |
42 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs930466223 CA321946372 |
42 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA410511060 rs1425667509 |
46 | S>N | No |
ClinGen gnomAD |
|
|
CA410511056 rs1266165203 |
47 | F>L | No |
ClinGen gnomAD |
|
|
CA410511032 rs754964352 |
50 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754964352 CA10068739 |
50 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410511033 rs754964352 |
50 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321946359 rs139525055 |
51 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs753731600 CA10068738 |
52 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10068733 rs763380658 |
56 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs146321452 RCV000889324 CA10068734 |
56 | D>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs146321452 CA10068735 |
56 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776065997 CA10068732 |
57 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA410510983 rs1302043538 |
58 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 58 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA321946329 rs982120136 |
59 | F>V | No |
ClinGen TOPMed |
|
|
CA10068728 rs777011514 |
60 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410510967 rs1407618900 |
61 | R>Q | No |
ClinGen gnomAD |
|
|
rs142360873 CA10068727 |
61 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10068725 rs148765362 |
62 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410510957 rs1418489942 |
63 | Q>* | No |
ClinGen gnomAD |
|
|
rs1378111666 CA410510954 |
63 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs768808906 CA10068680 |
64 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA10068679 rs768808906 |
64 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA410510315 rs769633951 |
66 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1273706816 CA410510309 |
67 | E>D | No |
ClinGen gnomAD |
|
|
CA410510314 rs374348834 |
67 | E>K | No |
ClinGen ESP TOPMed |
|
|
rs374348834 CA321942349 |
67 | E>Q | No |
ClinGen ESP TOPMed |
|
|
rs1332453473 CA410510299 |
69 | T>A | No |
ClinGen gnomAD |
|
|
CA10068674 rs770520822 |
69 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10068673 rs770520822 |
69 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs949355187 CA321942344 |
70 | P>L | No |
ClinGen TOPMed |
|
|
CA321942339 rs917538525 |
71 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1399973861 CA410510291 |
71 | V>M | No |
ClinGen gnomAD |
|
|
rs1467624542 CA410510283 |
72 | L>P | No |
ClinGen gnomAD |
|
|
rs777559401 CA10068671 COSM228746 |
73 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA410510272 rs1248541487 |
74 | Y>F | No |
ClinGen gnomAD |
|
|
rs370896115 CA10068669 |
74 | Y>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1238506792 CA410510245 |
78 | A>V | No |
ClinGen gnomAD |
|
|
CA410510244 rs1310333627 |
79 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761859510 CA10068664 |
80 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764371313 CA410510234 |
81 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs764371313 CA10068662 |
81 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA410510226 rs1238911278 |
82 | P>H | No |
ClinGen gnomAD |
|
|
CA410510224 rs1238911278 |
82 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 83 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410510220 rs1431775971 |
83 | V>G | No |
ClinGen TOPMed |
|
|
CA410510221 CA410510222 rs1332426561 |
83 | V>L | No |
ClinGen gnomAD |
|
|
CA410510223 rs1332426561 |
83 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1415550417 CA410510193 |
87 | T>I | No |
ClinGen gnomAD |
|
|
CA410510194 rs1415550417 |
87 | T>S | No |
ClinGen gnomAD |
|
|
rs199502402 CA321942289 |
89 | Y>C | No |
ClinGen Ensembl |
|
|
CA10068657 rs202074305 |
89 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410510177 rs1381193200 |
90 | L>V | No |
ClinGen gnomAD |
|
|
rs147537422 CA10068654 |
91 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1482122121 CA410510172 |
91 | R>H | No |
ClinGen gnomAD |
|
|
rs147537422 CA10068655 |
91 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1236688629 CA410510168 |
92 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA410510169 rs1236688629 |
92 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA410510156 rs1210684537 |
93 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM444606 CA10068652 rs747708408 |
94 | P>L | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs560198754 CA321942262 |
95 | V>A | No |
ClinGen Ensembl |
|
|
CA10068649 rs746279987 |
95 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs746279987 CA10068650 |
95 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs143378338 CA321942245 |
101 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10068644 rs758524604 |
102 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs764021515 CA10068645 |
102 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs765533133 CA10068642 |
103 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10068641 rs759378830 |
104 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1419246534 CA410510098 |
104 | V>M | No |
ClinGen gnomAD |
|
|
CA410510092 rs1160614835 |
105 | S>A | No |
ClinGen gnomAD |
|
|
rs776639684 CA10068640 |
106 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410510053 rs1555884755 |
112 | L>M | No |
ClinGen Ensembl |
|
|
rs1215244590 CA410510030 |
115 | S>L | No |
ClinGen gnomAD |
|
|
CA10068633 rs747734314 |
117 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA410510023 rs1170926154 |
117 | A>T | No |
ClinGen TOPMed |
|
|
rs1320767909 CA410510006 |
119 | M>T | No |
ClinGen gnomAD |
|
|
rs1569003623 CA410510009 |
119 | M>V | No |
ClinGen Ensembl |
|
|
rs1041015492 CA321942186 |
120 | Q>H | No |
ClinGen gnomAD |
|
|
CA10068631 rs768355368 |
120 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1357911372 CA410509981 |
122 | M>I | No |
ClinGen gnomAD |
|
|
CA10068630 rs746226591 |
123 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781467744 CA410509970 |
124 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs781467744 CA410509971 |
124 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs781467744 CA10068629 |
124 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1415089639 CA410509942 |
128 | V>I | No |
ClinGen TOPMed |
|
|
CA410509926 rs1165213418 |
130 | M>T | No |
ClinGen gnomAD |
|
|
rs1569003415 CA410509929 |
130 | M>V | No |
ClinGen Ensembl |
|
|
CA410509913 rs758374344 |
132 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs201230009 CA321942150 |
132 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA10068625 rs758374344 |
132 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1264646995 CA410509909 |
133 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10068624 rs752866197 |
133 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA410509894 rs1265729062 |
135 | A>V | No |
ClinGen gnomAD |
|
|
rs755188060 CA10068622 |
136 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA321942132 rs755188060 |
136 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222751912 CA410509892 |
136 | Y>H | No |
ClinGen gnomAD |
|
|
CA10068621 rs754128429 |
138 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1321577020 CA410509875 |
139 | Y>H | No |
ClinGen TOPMed |
|
|
rs1368006308 CA410509867 |
140 | I>L | No |
ClinGen TOPMed |
|
|
CA10068620 rs766229836 |
140 | I>N | No |
ClinGen ExAC |
|
|
rs1368006308 CA410509868 |
140 | I>V | No |
ClinGen TOPMed |
|
|
rs549433809 CA10068619 |
141 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1569003098 CA410509852 |
142 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs773977670 CA410509842 |
144 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773977670 CA10068614 |
144 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10068612 rs775144154 |
145 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4135277 CA10068611 rs775144154 |
145 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10068613 rs375248262 |
145 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 146 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10068610 rs771242705 |
146 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10068608 rs772690076 |
147 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs772690076 CA10068607 |
147 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA410509828 rs1449625082 |
147 | A>V | No |
ClinGen TOPMed |
|
|
rs1466050965 CA410509825 COSM1031457 |
148 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA10068606 rs570406160 |
148 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321942100 rs570406160 |
148 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466050965 CA410509827 |
148 | R>S | No |
ClinGen gnomAD |
|
|
CA410509816 rs1432149538 |
149 | Y>* | No |
ClinGen gnomAD |
|
|
CA321942089 rs937567183 |
150 | Q>R | No |
ClinGen Ensembl |
|
|
CA10068604 rs200182114 |
151 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10068603 rs754075330 |
151 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 151 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754075330 CA410509806 |
151 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456187543 CA410509793 |
153 | A>V | No |
ClinGen gnomAD |
|
|
CA10068602 rs780465334 |
154 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755951168 CA10068601 |
155 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA410509775 rs1253660442 |
156 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1253660442 CA410509776 |
156 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA10068599 rs767351055 |
158 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA410509767 rs767351055 COSM1225991 |
158 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1375013418 CA410509745 |
162 | L>M | No |
ClinGen gnomAD |
|
|
rs1330389660 CA410509738 |
163 | G>D | No |
ClinGen gnomAD |
|
|
rs1005955595 CA321942052 |
166 | T>I | No |
ClinGen TOPMed |
|
|
rs1300949321 CA410509712 |
167 | S>T | No |
ClinGen gnomAD |
|
|
rs1465512846 CA410509704 |
168 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10068592 rs769482024 |
175 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10068591 rs760930392 |
178 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483220132 CA410509644 |
179 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1256638549 CA410509641 |
179 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1213156948 CA410509640 |
180 | V>I | No |
ClinGen gnomAD |
|
|
CA10068589 rs772340863 |
181 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA410509625 rs1337271063 |
182 | F>C | No |
ClinGen gnomAD |
|
|
CA10068588 rs748642212 |
182 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1337271063 CA410509626 |
182 | F>S | No |
ClinGen gnomAD |
|
|
CA10068587 rs779597576 |
183 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310341685 CA410509621 |
183 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 184 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402871655 COSM1031456 CA410509612 |
184 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs780410119 CA10068584 |
194 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA410509532 rs1378785752 |
195 | F>V | No |
ClinGen gnomAD |
|
|
CA10068583 rs756426597 |
195 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA410509501 rs1185926926 |
197 | V>A | No |
ClinGen gnomAD |
|
|
rs750614412 CA10068582 |
200 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10068581 rs780983109 |
200 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1285400688 CA410509429 |
204 | K>* | No |
ClinGen gnomAD |
|
|
CA10068579 rs374060592 |
205 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1435735290 CA410509411 COSM1414516 |
205 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1435735290 CA410509410 |
205 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA321941962 rs995770542 |
207 | K>N | No |
ClinGen gnomAD |
|
|
CA321941963 rs1043812673 |
207 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10068578 rs370202783 |
208 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1569001767 CA410509359 |
210 | L>V | No |
ClinGen Ensembl |
|
|
CA10068576 rs752257592 |
211 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410509314 rs1379933336 |
213 | N>S | No |
ClinGen gnomAD |
|
|
rs1339231755 CA410509302 |
214 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA410509293 rs1327888153 |
215 | D>G | No |
ClinGen Ensembl |
|
|
rs750144707 CA321941930 |
215 | D>H | No |
ClinGen Ensembl |
|
|
CA10068572 rs776173955 |
216 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410509280 rs776173955 |
216 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200873712 CA321941925 |
217 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA410509261 rs762128319 |
217 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA10068570 rs762128319 |
217 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200873712 CA10068571 |
217 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs769776728 CA10068565 |
221 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10068564 rs746051891 |
222 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10068563 rs540209920 |
222 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1356706797 CA410509194 |
223 | S>L | No |
ClinGen gnomAD |
|
|
rs1274850312 CA410509184 |
224 | A>V | No |
ClinGen gnomAD |
|
|
rs1317268410 CA410509178 |
225 | S>A | No |
ClinGen gnomAD |
|
|
rs572974130 CA10068561 |
225 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10068560 rs572974130 |
225 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143156417 CA10068557 |
226 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10068558 rs752648010 |
226 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10068556 rs754481174 |
227 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10068555 rs141010873 |
228 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 229 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410509136 rs1167615796 |
229 | R>G | No |
ClinGen gnomAD |
|
|
rs201955040 CA10068554 |
229 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201955040 CA410509128 |
229 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762227381 CA10068553 |
230 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA410509085 rs1284904976 |
232 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs377185311 CA10068550 |
234 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10068549 rs769876248 |
235 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA10068548 rs769876248 |
235 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs776887675 CA321941846 CA10068546 |
236 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs368917550 CA10068545 |
239 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10068543 rs777474323 |
241 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA410508986 rs1233457073 |
242 | L>V | No |
ClinGen gnomAD |
|
|
rs1307518363 CA410508959 |
245 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs975960079 CA410508947 |
246 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA321941828 rs975960079 |
246 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758215658 CA10068542 |
247 | G>R | No |
ClinGen ExAC |
|
|
rs1445106099 CA410508928 |
248 | D>N | No |
ClinGen gnomAD |
|
|
rs947574093 CA321941823 |
252 | A>G | No |
ClinGen gnomAD |
|
|
rs1330069067 CA410508888 |
252 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs947574093 CA410508881 |
252 | A>V | No |
ClinGen gnomAD |
|
|
rs1253102203 CA410508876 |
253 | R>P | No |
ClinGen TOPMed |
|
|
rs575383877 CA10068539 |
253 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410508846 rs753348066 |
256 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10068537 rs779754042 |
256 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753348066 CA10068538 |
256 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA410508826 rs1438788576 |
257 | E>D | No |
ClinGen gnomAD |
|
|
rs1176526985 CA410508832 |
257 | E>G | No |
ClinGen gnomAD |
|
|
rs755762224 CA10068536 |
259 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA410508787 rs1440651882 |
261 | S>N | No |
ClinGen gnomAD |
|
|
CA410508782 rs1277258187 CA410508781 |
261 | S>R | No |
ClinGen gnomAD |
|
|
CA10068534 rs9282853 |
262 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410508765 rs765709900 |
263 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765709900 CA10068530 COSM3423998 |
263 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10068531 rs753215575 |
263 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10068528 rs776636969 |
264 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10068529 COSM1682057 rs759645172 |
264 | R>W | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA410508750 rs1357964999 |
265 | P>A | No |
ClinGen gnomAD |
|
|
rs1333585092 CA410508746 |
265 | P>R | No |
ClinGen gnomAD |
|
|
CA410508730 rs773458721 CA10068525 |
266 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771825301 CA10068524 |
267 | L>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1031450 rs1419362755 CA410508715 |
268 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA10068522 rs372734113 |
268 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10068523 rs372734113 |
268 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10068521 rs768545030 |
270 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1714095 CA10068520 rs201062530 |
271 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC |
|
CA410508675 rs1310567718 |
272 | L>F | No |
ClinGen TOPMed |
|
|
rs1256817983 CA410508659 |
273 | W>* | No |
ClinGen TOPMed |
|
|
rs755707220 CA10068519 |
273 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755707220 CA10068518 |
273 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321941735 rs916800271 |
275 | V>G | No |
ClinGen Ensembl |
|
|
rs1188586645 CA410508631 |
276 | F>V | No |
ClinGen gnomAD |
|
|
rs1283303389 CA410508606 |
277 | N>K | No |
ClinGen gnomAD |
|
|
rs1486330835 CA410508611 |
277 | N>S | No |
ClinGen gnomAD |
|
|
CA410508597 rs1215380342 |
278 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA410508588 rs1317198351 |
279 | A>V | No |
ClinGen gnomAD |
|
|
CA10068516 rs781029493 |
281 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs113642554 CA410508553 |
282 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10068514 rs753057754 |
284 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1569000224 CA410508524 |
285 | V>A | No |
ClinGen Ensembl |
|
|
rs1399606516 CA410508507 |
286 | Y>* | No |
ClinGen gnomAD |
|
|
CA10068512 rs759888970 |
286 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1346084661 CA410508493 |
287 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs199683090 CA321941704 |
288 | V>M | No |
ClinGen 1000Genomes TOPMed |
|
|
CA410508476 rs1161005320 |
289 | H>Y | No |
ClinGen gnomAD |
|
|
CA10068511 rs754378807 |
290 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1013303201 CA321941654 |
294 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1476161842 CA410508395 |
295 | V>M | No |
ClinGen gnomAD |
|
|
CA410508381 rs1602816169 |
296 | D>A | No |
ClinGen Ensembl |
|
|
CA410508365 rs1260382890 |
297 | P>H | No |
ClinGen gnomAD |
|
|
CA410508326 rs1485986891 |
300 | N>K | No |
ClinGen gnomAD |
|
|
rs772342183 CA410508302 |
302 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772342183 COSM1414514 CA10068507 |
302 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10068503 rs145725041 |
303 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410508295 rs145725041 |
303 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145725041 CA10068502 |
303 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768509922 CA10068504 |
303 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410508265 rs1310192443 |
306 | N>S | No |
ClinGen gnomAD |
|
|
CA410508243 rs746675891 |
308 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757033266 CA10068498 |
308 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746675891 CA10068497 |
308 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410508236 rs1290789389 |
309 | A>T | No |
ClinGen gnomAD |
|
|
rs373685390 CA10068495 |
309 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410508210 rs1602814987 |
311 | A>G | No |
ClinGen Ensembl |
|
|
CA10068493 rs766924391 |
311 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1270361209 CA410508203 |
312 | A>S | No |
ClinGen TOPMed |
|
|
rs1462923602 CA410508186 |
313 | S>F | No |
ClinGen gnomAD |
|
|
CA321941628 rs200236009 |
314 | T>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 316 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA321941337 rs367676430 |
319 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367676430 CA410508072 |
319 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367676430 CA10068464 |
319 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10068463 rs765124782 |
320 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA410508034 rs1374328256 |
322 | F>V | No |
ClinGen gnomAD |
|
|
CA10068459 rs746581658 |
324 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200647386 CA10068458 |
324 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs934095197 CA321941308 |
327 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA410507946 rs1181594712 |
329 | I>M | No |
ClinGen gnomAD |
|
|
CA10068455 rs780339782 |
329 | I>T | No |
ClinGen ExAC |
|
|
rs1362403167 CA410507953 |
329 | I>V | No |
ClinGen gnomAD |
|
|
CA10068454 rs770169332 |
330 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746335177 CA10068453 |
330 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs371576845 CA10068452 |
332 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10068450 rs751719682 |
333 | R>C | Variant assessed as Somatic; 7.608e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs139822233 CA10068448 |
333 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139822233 CA10068449 |
333 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1259895455 CA410507870 |
334 | W>* | No |
ClinGen gnomAD |
|
|
rs1329597698 CA410507855 |
335 | S>C | No |
ClinGen TOPMed |
|
|
CA410507846 rs1263976097 |
336 | K>Q | No |
ClinGen TOPMed |
|
|
rs59638403 RCV000898711 CA10068447 |
338 | L>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1355489726 CA410506911 |
340 | A>V | No |
ClinGen gnomAD |
|
|
CA321941275 rs56822323 |
341 | G>D | No |
ClinGen gnomAD |
|
|
CA10068444 rs142899279 |
342 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410506872 rs1486450479 |
343 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10068443 rs766400015 |
344 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368087026 CA321941264 |
344 | A>V | No |
ClinGen ESP gnomAD |
|
|
rs1001925120 CA410506848 |
345 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10068442 rs760103304 |
345 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410506845 rs760103304 |
345 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001925120 CA321941263 |
345 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA321941256 rs903517522 |
347 | A>T | No |
ClinGen TOPMed |
|
|
rs771496700 CA10068440 |
347 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1205948307 CA410506796 |
350 | V>D | No |
ClinGen gnomAD |
|
|
rs1205948307 CA410506792 |
350 | V>G | No |
ClinGen gnomAD |
|
|
CA10068439 rs761405628 |
352 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs200599378 CA10068438 |
354 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410506719 rs1158032004 |
356 | T>M | No |
ClinGen TOPMed |
|
|
rs930146460 CA321941242 |
357 | R>C | No |
ClinGen TOPMed |
|
|
CA410506713 rs1184039149 |
357 | R>H | No |
ClinGen gnomAD |
|
|
CA410506691 rs1457139891 |
359 | P>A | No |
ClinGen gnomAD |
|
|
rs781535674 CA10068434 |
359 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10068430 rs371125099 |
363 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199761250 CA321941194 |
366 | Y>C | No |
ClinGen 1000Genomes |
|
|
CA410506585 rs368452775 |
367 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368452775 CA10068428 |
367 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410506583 rs1324354416 |
368 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 369 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766096189 CA10068426 |
370 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766096189 CA10068425 |
370 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912722796 CA321941181 |
371 | L>P | No |
ClinGen Ensembl |
|
|
rs980434503 CA410506554 |
372 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1474434132 CA410506551 |
373 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1050274678 CA321941171 |
373 | R>H | No |
ClinGen gnomAD |
|
|
rs750349592 CA10068423 |
374 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750349592 CA321941147 |
374 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10068422 rs767015205 |
375 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212911112 CA410506535 |
376 | Y>C | No |
ClinGen gnomAD |
|
|
rs761354702 CA10068421 |
378 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA410506521 rs1468852390 |
378 | F>V | No |
ClinGen gnomAD |
|
|
CA10068418 CA410506510 rs759889380 |
380 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA10068419 rs759889380 |
380 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA410506495 rs563622167 |
382 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA10068415 rs747497395 |
382 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229126893 CA410506500 |
382 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 383 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA321941093 rs908507696 |
384 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1350430069 CA410506112 |
386 | Q>* | No |
ClinGen gnomAD |
|
|
CA410506103 rs1445035727 |
386 | Q>H | No |
ClinGen gnomAD |
|
|
CA410506109 rs1280585885 |
386 | Q>R | No |
ClinGen gnomAD |
|
|
CA410506080 rs1353584725 |
388 | A>V | No |
ClinGen gnomAD |
|
|
rs139437559 CA10068385 |
389 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 394 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202114789 CA10068383 |
394 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202114789 CA10068382 |
394 | E>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10068380 rs752360989 |
397 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1365321794 CA410505965 |
398 | L>P | No |
ClinGen TOPMed |
|
|
rs750689365 CA410505938 CA10068377 |
401 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10068375 rs762364238 |
403 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs375940608 CA10068374 |
404 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10068372 rs371521033 |
406 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10068370 rs769975315 |
407 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10068369 rs746105885 |
408 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10068366 rs746905281 |
410 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1320092899 CA410505745 |
416 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs758400707 CA410505742 |
417 | I>L | No |
ClinGen ExAC TOPMed |
|
|
CA10068360 rs138047632 |
417 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10068361 rs758400707 |
417 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA10068359 rs753571743 |
419 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA321937507 rs752092346 |
420 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762309005 CA10068357 |
420 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368041771 CA10068354 |
421 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10068355 rs764757166 |
421 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764757166 CA410505702 |
421 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10068353 rs374164733 |
422 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs915176707 CA321937497 |
422 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1273040164 CA410505681 |
423 | G>D | No |
ClinGen gnomAD |
|
|
CA10068351 rs759627312 |
426 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA410505646 rs1293551773 |
426 | L>R | No |
ClinGen gnomAD |
|
|
rs151246436 CA10068350 |
427 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1329026436 CA410505626 |
428 | V>G | No |
ClinGen TOPMed |
|
|
CA10068349 rs770678515 |
429 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10068348 rs201019287 |
429 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410505600 rs1393467198 |
431 | Q>* | No |
ClinGen gnomAD |
|
|
rs771840231 CA10068346 |
431 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10068347 rs777672442 |
431 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs768029902 CA10068323 |
432 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10068322 rs748866462 |
433 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA410504713 rs1375741490 |
436 | S>A | No |
ClinGen gnomAD |
|
|
CA10068321 rs779849649 |
436 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745527688 CA10068320 |
437 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745527688 CA10068319 |
437 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321929273 rs1015489576 |
440 | L>R | No |
ClinGen Ensembl |
|
|
CA10068317 rs758821447 |
442 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280466084 CA410504640 |
443 | S>T | No |
ClinGen TOPMed |
|
|
rs753108944 CA10068316 |
444 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1485462253 CA410504624 |
445 | I>F | No |
ClinGen gnomAD |
|
|
CA10068315 rs765818034 |
445 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755033905 CA10068314 |
446 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA321929241 rs1001451357 |
447 | F>L | No |
ClinGen Ensembl |
|
|
rs1035694894 CA321929245 |
447 | F>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 448 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs905797051 CA321929227 |
449 | G>R | No |
ClinGen Ensembl |
|
|
CA410504571 rs1259950190 |
450 | A>S | No |
ClinGen gnomAD |
|
|
rs753983096 CA10068313 |
450 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568969907 CA410504558 |
451 | M>T | No |
ClinGen Ensembl |
|
|
CA10068311 rs760841601 |
453 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA410504532 rs1602692629 |
453 | D>G | No |
ClinGen Ensembl |
|
|
CA10068312 rs766463630 |
453 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255782379 CA410504525 |
454 | G>S | No |
ClinGen TOPMed |
|
|
CA410504509 rs1335735298 |
455 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA321929216 rs775012606 |
455 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs59841046 CA10068309 |
456 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773517804 CA10068310 |
456 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10068308 rs58227024 |
458 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410504462 rs1475564868 |
459 | Q>* | No |
ClinGen TOPMed |
|
|
CA410504457 rs1474884551 |
459 | Q>H | No |
ClinGen gnomAD |
|
|
CA410504461 rs1163422640 |
459 | Q>R | No |
ClinGen gnomAD |
|
|
CA10068306 rs546839730 |
460 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201021365 CA10068307 |
460 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410504436 rs1260738514 |
461 | G>D | No |
ClinGen gnomAD |
|
|
CA410504428 rs1602692196 |
462 | H>P | No |
ClinGen Ensembl |
|
|
CA321929199 rs749244983 |
464 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10068304 rs749244983 |
464 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10068301 rs745474726 |
465 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769448820 CA10068302 |
465 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410504365 rs780934095 |
467 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321929188 rs780934095 |
467 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10068300 rs780934095 |
467 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748603200 CA10068297 |
468 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410504347 rs748603200 |
468 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568969549 CA410504355 |
468 | P>S | No |
ClinGen Ensembl |
|
|
CA10068295 rs560827689 |
469 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10068294 rs7278825 |
469 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10068293 rs780069596 |
470 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756227327 CA10068292 |
471 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1165113691 CA410504297 |
472 | L>P | No |
ClinGen gnomAD |
|
|
CA410504295 rs1602691696 |
473 | R>G | No |
ClinGen Ensembl |
|
|
CA410504286 rs1190162633 |
473 | R>S | No |
ClinGen TOPMed |
|
|
rs868713628 CA321929161 |
475 | A>V | No |
ClinGen Ensembl |
|
|
CA10068288 rs751304390 |
476 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321929158 rs751304390 |
476 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10068289 rs777454151 |
476 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751304390 CA321929157 |
476 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370931823 CA10068287 |
478 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10068286 rs71324431 |
478 | E>D | No |
ClinGen ExAC |
|
|
rs775595969 CA10068284 |
479 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10068283 rs769393791 |
480 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1193628602 CA410504209 |
482 | Q>P | No |
ClinGen gnomAD |
|
|
CA410504198 rs759135376 |
484 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776134724 CA410504186 |
485 | S>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1031442 CA410504185 CA321929123 rs770683387 |
486 | V>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs770683387 CA10068279 |
486 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410504168 rs1431096269 |
488 | D>G | No |
ClinGen TOPMed |
|
|
rs1326124788 CA410504164 |
489 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1395900409 CA410504145 |
492 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1431912386 CA410504126 |
495 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1214326611 CA410504109 |
497 | A>V | No |
ClinGen TOPMed |
|
|
rs769040907 CA10068275 |
500 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193922486 CA410504090 |
500 | P>S | No |
ClinGen TOPMed |
|
|
rs780587368 CA10068273 |
501 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410504083 rs780587368 |
501 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10068270 rs781139982 |
504 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA321929095 rs557998866 |
505 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1383687966 CA410504055 |
506 | D>G | No |
ClinGen TOPMed |
|
|
rs1383687966 CA410504054 |
506 | D>V | No |
ClinGen TOPMed |
|
|
rs757445943 CA10068269 |
506 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1173923210 CA410504046 |
507 | S>N | No |
ClinGen gnomAD |
|
|
CA410504035 rs530468908 |
509 | G>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA321929086 rs530468908 |
509 | G>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1278627951 CA410504038 |
509 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 510 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763939171 CA410504033 |
510 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763939171 CA10068267 |
510 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410504032 rs763939171 |
510 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201529810 CA10068266 |
511 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1303937194 CA410504022 |
512 | G>R | No |
ClinGen TOPMed |
|
|
CA410504012 rs1335222650 |
513 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA410504017 rs1236870564 |
513 | P>T | No |
ClinGen TOPMed |
|
|
rs370343074 CA10068264 |
514 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758964210 CA10068263 |
515 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758964210 CA321929059 |
515 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312508603 CA410503999 |
516 | L>P | No |
ClinGen gnomAD |
|
|
rs1021564209 CA321929058 |
518 | Q>E | No |
ClinGen gnomAD |
|
|
rs770372413 COSM1682056 CA10068261 |
518 | Q>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs760337198 CA10068260 |
520 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA410503964 rs1156695316 |
521 | S>I | No |
ClinGen gnomAD |
|
|
rs772893035 CA410503963 |
521 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10068258 rs58836581 |
522 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10068257 RCV000892424 rs58836581 |
522 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA321929045 rs897640888 |
523 | P>S | No |
ClinGen TOPMed |
|
|
rs866919726 CA321929041 |
524 | Y>C | No |
ClinGen Ensembl |
|
|
rs1256285301 CA410503932 |
527 | Q>K | No |
ClinGen gnomAD |
|
|
rs145226289 CA10068254 |
529 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410503910 COSM1165445 rs1281227104 |
530 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs202244244 CA10068250 |
531 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202244244 CA10068251 |
531 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752605392 CA10068246 |
534 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA410503867 rs1389468974 |
537 | L>M | No |
ClinGen TOPMed |
|
|
CA410503852 rs1305979626 |
539 | P>L | No |
ClinGen TOPMed |
|
|
CA410503853 rs1449063499 |
539 | P>S | No |
ClinGen gnomAD |
|
|
CA10068243 rs753752268 |
541 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA10068242 rs765883361 |
542 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1389361371 CA410503830 |
543 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA410503828 rs1389361371 |
543 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs760152623 CA10068241 |
544 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410503818 rs1359211322 |
545 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1359211322 CA410503819 |
545 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs201271808 CA10068240 |
545 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1271388988 CA410503800 |
548 | L>P | No |
ClinGen gnomAD |
|
|
CA321928957 rs1049475623 |
549 | C>R | No |
ClinGen Ensembl |
|
|
CA410503790 rs1184556790 |
550 | S>P | No |
ClinGen TOPMed |
|
|
CA10068234 rs376071998 |
551 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10068232 rs771018565 |
552 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA321928925 rs942338226 |
552 | Q>R | No |
ClinGen gnomAD |
|
|
CA410503750 rs1568968094 |
557 | E>K | No |
ClinGen Ensembl |
|
|
VAR_052404 rs35786590 CA321928918 |
558 | A>V | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 560 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381704257 CA410503717 |
561 | E>D | No |
ClinGen gnomAD |
|
|
CA10068230 rs778137044 |
561 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 563 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410503702 rs922871423 |
564 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA321928914 rs922871423 |
564 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA410503697 rs1460109776 |
565 | Q>* | No |
ClinGen TOPMed |
|
|
rs758626496 CA10068229 |
566 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 567 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748394202 CA10068228 |
568 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1297442843 CA410503670 |
569 | H>R | No |
ClinGen TOPMed |
|
|
CA410503655 rs1459853924 |
571 | P>L | No |
ClinGen gnomAD |
|
|
rs187967718 CA321928899 |
572 | G>D | No |
ClinGen 1000Genomes |
|
|
rs755649088 CA10068223 |
580 | C>Y | No |
ClinGen ExAC |
|
|
CA10068222 rs574040108 |
582 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767030475 CA10068221 |
583 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10068219 rs774020530 |
584 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10068217 rs144916610 |
585 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10068216 rs144916610 |
585 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs555621719 CA10068215 |
586 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs543796693 CA321928860 |
587 | Q>P | No |
ClinGen 1000Genomes |
|
|
rs773367143 CA10068213 |
589 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA321928857 rs577901180 |
591 | Q>E | No |
ClinGen gnomAD |
1 associated diseases with P41440
[MIM: 612656]: Episodic ataxia 6 (EA6)
A disorder characterized by episodic ataxia, seizures, migraine and alternating hemiplegia. {ECO:0000269|PubMed:16116111}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by episodic ataxia, seizures, migraine and alternating hemiplegia. {ECO:0000269|PubMed:16116111}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 regional properties for P41440
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Sodium:dicarboxylate symporter, conserved site | 84 - 98 | IPR018107-1 |
| conserved_site | Sodium:dicarboxylate symporter, conserved site | 392 - 415 | IPR018107-2 |
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| brush border membrane | The portion of the plasma membrane surrounding the brush border. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| 2',3'-cyclic GMP-AMP binding | Binding to 2',3' cyclic GMP-AMP (cGAMP) nucleotide, a cyclic purine dinucleotide that consists of AMP and GMP units cyclized via 2',5' and 3',5' linkages. |
| antiporter activity | Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out). |
| cyclic-GMP-AMP transmembrane transporter activity | Enables the transfer of cyclic-GMP-AMP from one side of a membrane to the other. |
| folate:anion antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Folate derivative (out) + anion (in) = folate derivative (in) + anion (out). The Reduced Folate Carrier (RCF(SLC19A1) acts by an antiport mechanism. RCF carries several folate derivatives: MTX, PMX, ratitrexed, pralatrexate, 5-methyl THF, and 5-formyl THF. |
| folic acid binding | Binding to folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines. |
| folic acid transmembrane transporter activity | Enables the transfer of folic acid (pteroylglutamic acid) from one side of a membrane to the other. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines. |
| methotrexate transmembrane transporter activity | Enables the transfer of methotrexate, 4-amino-10-methylformic acid from one side of a membrane to the other. Methotrexate is a folic acid analogue and a potent competitive inhibitor of dihydrofolate reductase. |
| organic anion transmembrane transporter activity | Enables the transfer of organic anions from one side of a membrane to the other. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. |
| xenobiotic transmembrane transporter activity | Enables the directed movement of a xenobiotic from one side of a membrane to the other. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| cyclic-GMP-AMP transmembrane import across plasma membrane | The directed movement of cyclic-GMP-AMP from outside of a cell, across the plasma membrane and into the cytosol. |
| female pregnancy | The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. |
| folate import across plasma membrane | The directed movement of folic acid from outside of a cell, across the plasma membrane and into the cytosol. |
| folate transmembrane transport | The process in which a folic acid, or one of its derivatives (dihydrofolate, tetrahydrofolate, methylene-tetrahydrofolate or methyl-tetrahydrofolate) is transported across a membrane. |
| folic acid metabolic process | The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines. |
| folic acid transport | The directed movement of folic acid (pteroylglutamic acid) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines. |
| methotrexate transport | The directed movement of methotrexate, 4-amino-10-methylformic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Methotrexate is a folic acid analogue and a potent competitive inhibitor of dihydrofolate reductase. |
| organic anion transport | The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
| transport across blood-brain barrier | The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier. |
| xenobiotic transmembrane transport | The process in which a xenobiotic, a compound foreign to the organim exposed to it, is transported across a membrane. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BZV2 | SLC19A3 | Thiamine transporter 2 | Homo sapiens (Human) | PR |
| P41438 | Slc19a1 | Reduced folate transporter | Mus musculus (Mouse) | PR |
| O45166 | folt-2 | Folate-like transporter 2 | Caenorhabditis elegans | PR |
| Q17766 | folt-1 | Folate transporter 1 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVPSSPAVEK | QVPVEPGPDP | ELRSWRHLVC | YLCFYGFMAQ | IRPGESFITP | YLLGPDKNFT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| REQVTNEITP | VLSYSYLAVL | VPVFLLTDYL | RYTPVLLLQG | LSFVSVWLLL | LLGHSVAHMQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LMELFYSVTM | AARIAYSSYI | FSLVRPARYQ | RVAGYSRAAV | LLGVFTSSVL | GQLLVTVGRV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SFSTLNYISL | AFLTFSVVLA | LFLKRPKRSL | FFNRDDRGRC | ETSASELERM | NPGPGGKLGH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ALRVACGDSV | LARMLRELGD | SLRRPQLRLW | SLWWVFNSAG | YYLVVYYVHI | LWNEVDPTTN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SARVYNGAAD | AASTLLGAIT | SFAAGFVKIR | WARWSKLLIA | GVTATQAGLV | FLLAHTRHPS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SIWLCYAAFV | LFRGSYQFLV | PIATFQIASS | LSKELCALVF | GVNTFFATIV | KTIITFIVSD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VRGLGLPVRK | QFQLYSVYFL | ILSIIYFLGA | MLDGLRHCQR | GHHPRQPPAQ | GLRSAAEEKA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AQALSVQDKG | LGGLQPAQSP | PLSPEDSLGA | VGPASLEQRQ | SDPYLAQAPA | PQAAEFLSPV |
| 550 | 560 | 570 | 580 | 590 | |
| TTPSPCTLCS | AQASGPEAAD | ETCPQLAVHP | PGVSKLGLQC | LPSDGVQNVN | Q |