Q9H015
PR
Gene name |
SLC22A4 (ETT, OCTN1, UT2H) |
Protein name |
Solute carrier family 22 member 4 |
Names |
Ergothioneine transporter, ET transporter, Organic cation/carnitine transporter 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6583 |
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 Q9H015
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H015-F1 | Predicted | AlphaFoldDB |
431 variants for Q9H015
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000006106 CA117718 RCV001682707 VAR_019530 rs1050152 |
503 | L>F | SLC22A4 POLYMORPHISM decreased carnitine transport; decreased acetylcholine transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3403281 rs759385265 |
2 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3403283 rs752743549 |
6 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3403286 rs763973178 |
8 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763973178 CA127209409 |
8 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3403288 rs751103752 |
9 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360811646 rs751103752 |
9 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 9 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756693505 CA3403289 |
10 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342447961 CA360811666 |
12 | G>D | No |
ClinGen gnomAD |
|
|
CA3403290 rs780840704 |
13 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs780840704 CA360811669 |
13 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1404223378 CA563057017 |
14 | W>T | No |
ClinGen gnomAD |
|
|
CA360811688 rs1445883728 |
15 | G>E | No |
ClinGen gnomAD |
|
|
CA360811686 CA360811685 rs1325651731 |
15 | G>R | No |
ClinGen TOPMed |
|
|
CA3403292 rs755438066 |
19 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA360811714 rs755438066 |
19 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3403293 rs779117302 |
19 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360811716 rs779117302 |
19 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360811713 rs755438066 |
19 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1159365052 CA360811731 |
21 | I>N | No |
ClinGen gnomAD |
|
|
rs1300167148 CA360811743 |
22 | F>C | No |
ClinGen gnomAD |
|
|
CA360811735 rs1580814537 |
22 | F>I | No |
ClinGen Ensembl |
|
|
rs758995324 CA3403296 |
25 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs778384141 CA3403297 |
26 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA360811814 rs1282457926 |
28 | S>T | No |
ClinGen gnomAD |
|
|
rs1240790555 CA360811850 |
31 | P>R | No |
ClinGen gnomAD |
|
|
CA360811843 rs1455963466 |
31 | P>S | No |
ClinGen TOPMed |
|
|
rs372949734 CA3403301 |
32 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 33 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775173540 CA3403303 |
35 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA127209503 rs926936998 |
36 | G>D | No |
ClinGen Ensembl |
|
|
rs762771154 CA3403304 |
36 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 37 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490660372 CA360811923 |
38 | S>* | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360811934 rs1289793959 |
39 | V>A | No |
ClinGen gnomAD |
|
|
rs1232007338 CA360811931 |
39 | V>F | No |
ClinGen gnomAD |
|
|
rs1580814602 CA360811941 |
40 | V>M | No |
ClinGen Ensembl |
|
|
rs1477438934 CA360811952 |
41 | F>Y | No |
ClinGen TOPMed |
|
|
CA360811964 rs1375453700 |
42 | L>P | No |
ClinGen TOPMed |
|
|
rs1421218980 CA360811969 |
43 | A>T | No |
ClinGen gnomAD |
|
|
rs936998472 CA127209514 |
43 | A>V | No |
ClinGen Ensembl |
|
|
CA127209519 rs1001700978 |
44 | G>E | No |
ClinGen TOPMed |
|
|
CA360811977 rs1194611389 |
44 | G>R | No |
ClinGen TOPMed |
|
|
rs774216692 CA3403307 |
45 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360811990 rs1580814628 |
45 | T>P | No |
ClinGen Ensembl |
|
|
rs761375217 CA3403308 |
46 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA360812016 rs750134122 CA3403311 |
47 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs914846394 CA127209528 |
48 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360812033 rs1342739727 |
49 | R>C | No |
ClinGen TOPMed |
|
|
CA360812031 rs1342739727 |
49 | R>G | No |
ClinGen TOPMed |
|
|
rs1392940261 CA360812034 |
49 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1342739727 CA360812029 |
49 | R>S | No |
ClinGen TOPMed |
|
|
rs531041134 CA3403312 |
53 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531041134 CA127209529 |
53 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1236499534 CA360812073 |
53 | P>S | No |
ClinGen Ensembl |
|
|
CA360812085 rs1237432724 |
54 | D>G | No |
ClinGen gnomAD |
|
|
CA360812109 COSM1541440 rs1245940397 |
56 | A>G | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3403316 rs747505093 |
56 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA360812110 rs1245940397 |
56 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360812135 rs1264182971 |
59 | S>N | No |
ClinGen gnomAD |
|
|
rs189072785 CA3403318 |
61 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781099471 CA360812173 |
63 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567991307 CA3403321 |
63 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360812178 rs567991307 |
63 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3403320 rs781099471 |
63 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429816974 CA360812189 |
64 | N>K | No |
ClinGen TOPMed |
|
|
CA360812195 rs1185644804 |
65 | N>H | No |
ClinGen gnomAD |
|
|
CA360812211 rs1243862861 |
66 | S>T | No |
ClinGen gnomAD |
|
|
CA360812219 rs1561531508 |
67 | V>I | No |
ClinGen Ensembl |
|
|
rs769942623 CA3403322 |
68 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360812245 rs769942623 |
68 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360812266 rs1580814756 COSM1471779 |
69 | L>Q | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3403324 rs749095440 |
70 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749095440 CA127209568 |
70 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360812272 rs749095440 COSM1310515 |
70 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs768427012 CA3403325 |
73 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA127209582 rs953362738 |
73 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3403327 rs761710621 |
74 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA360812343 rs1451312598 |
75 | R>P | No |
ClinGen gnomAD |
|
|
CA127209608 rs530039511 |
79 | H>Y | No |
ClinGen 1000Genomes |
|
|
rs767067005 CA3403328 |
80 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3403329 rs546926504 |
82 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA127209615 rs546926504 |
82 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360812491 rs1205864440 |
83 | R>C | No |
ClinGen gnomAD |
|
|
CA360812524 rs1561531580 |
85 | R>Q | No |
ClinGen Ensembl |
|
|
rs1243998155 CA360812529 |
86 | L>F | No |
ClinGen gnomAD |
|
|
rs760190076 CA3403330 |
87 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360812553 rs760190076 |
87 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3403331 rs765948801 |
88 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs753468949 CA3403334 |
89 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs758890712 CA3403335 |
89 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3403336 rs764548525 |
90 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1561531610 CA360812593 |
91 | N>S | No |
ClinGen Ensembl |
|
|
CA360812627 rs1358693013 |
93 | S>L | No |
ClinGen TOPMed |
|
|
CA360812642 rs1363444228 |
95 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1300586749 CA360812639 |
95 | L>V | No |
ClinGen gnomAD |
|
|
CA3403339 rs781696756 |
96 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3403338 rs757815454 |
96 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360812676 rs1208264925 |
99 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1323106683 CA360812671 |
99 | P>T | No |
ClinGen gnomAD |
|
|
CA360812678 rs1426169528 |
100 | G>R | No |
ClinGen TOPMed |
|
|
rs750475535 CA3403340 |
101 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA360812694 rs1413999132 |
101 | R>H | No |
ClinGen TOPMed |
|
|
CA127209688 rs1017236998 CA360812706 |
102 | D>E | No |
ClinGen gnomAD |
|
|
CA360812702 rs1205698571 |
102 | D>G | No |
ClinGen gnomAD |
|
|
rs1486217854 CA360812697 |
102 | D>N | No |
ClinGen gnomAD |
|
|
CA127209693 rs898401040 |
103 | V>M | No |
ClinGen Ensembl |
|
|
rs756161236 CA3403341 |
104 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs780199805 CA360812756 |
105 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360812761 rs1429665106 |
105 | L>P | No |
ClinGen gnomAD |
|
|
CA360812759 rs1429665106 |
105 | L>Q | No |
ClinGen gnomAD |
|
|
CA3403342 rs780199805 |
105 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3403343 rs749511874 |
109 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs749511874 CA360812816 |
109 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs11568502 CA360812894 |
113 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768484124 CA3403344 |
113 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217732111 CA360812971 |
118 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1217732111 CA360812973 |
118 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA360812980 rs1309394224 |
118 | E>V | No |
ClinGen gnomAD |
|
|
rs771932077 CA360812989 |
119 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771932077 CA3403347 |
119 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360813036 rs1290848903 |
121 | Q>R | No |
ClinGen TOPMed |
|
|
rs1487277476 CA360813053 |
122 | D>V | No |
ClinGen gnomAD |
|
|
rs1283893413 CA360813046 |
122 | D>Y | No |
ClinGen gnomAD |
|
|
CA3403348 rs773132721 |
124 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 124 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269422959 CA360813093 |
125 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA360813121 rs1484427199 |
126 | S>F | No |
ClinGen gnomAD |
|
|
CA360813125 rs1189191202 |
127 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs755377506 CA3403352 |
129 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs989845301 CA127209730 |
130 | T>A | No |
ClinGen TOPMed |
|
|
rs1350334530 CA360813175 |
130 | T>I | No |
ClinGen TOPMed |
|
|
rs1377930418 CA360813182 |
131 | E>K | No |
ClinGen gnomAD |
|
|
CA127188190 rs149111296 |
132 | W>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1400232251 CA360802978 |
132 | W>R | No |
ClinGen gnomAD |
|
|
rs1433461835 CA360802997 |
134 | L>R | No |
ClinGen TOPMed |
|
|
rs368904414 CA127188192 |
136 | C>Y | No |
ClinGen ESP TOPMed |
|
|
rs769416460 CA3403388 |
138 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 138 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361123888 CA360803027 |
139 | N>D | No |
ClinGen gnomAD |
|
|
CA127188199 rs996458872 |
139 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3403391 rs772375048 |
143 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs748940410 CA3403390 |
143 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3403392 rs773652433 |
145 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760911652 CA3403393 COSM2154192 |
146 | T>S | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1449848711 CA360803079 |
147 | S>Y | No |
ClinGen TOPMed |
|
|
CA3403396 rs766879151 |
148 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs398064 CA127188229 |
148 | L>V | No |
ClinGen Ensembl |
|
|
COSM1541439 rs1286049834 CA360803087 |
149 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3403399 rs765292870 |
151 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3403398 rs375482214 |
151 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1198530094 CA360803111 |
153 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1561537973 CA360803118 |
154 | L>F | No |
ClinGen Ensembl |
|
|
CA3403404 rs141478353 |
156 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141478353 CA3403403 |
156 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781338157 CA3403405 |
157 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360803133 rs1159240572 |
157 | S>T | No |
ClinGen gnomAD |
|
|
rs781338157 CA360803136 |
157 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1060653 rs11568509 CA3403407 |
159 | V>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA127188271 CA3403409 rs138375296 |
161 | G>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA360803168 rs372380514 |
162 | Q>H | No |
ClinGen ESP TOPMed |
|
|
rs1387146289 CA360803170 |
163 | L>V | No |
ClinGen gnomAD |
|
|
CA127188285 rs11568510 |
165 | D>G | No |
ClinGen Ensembl |
|
|
rs768389161 CA3403411 |
166 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773811534 CA3403412 |
166 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184534911 CA360803820 |
168 | G>D | No |
ClinGen TOPMed |
|
|
rs371708747 CA127189360 |
169 | R>G | No |
ClinGen ESP TOPMed |
|
|
rs781510670 CA3403435 |
172 | V>I | No |
ClinGen ExAC |
|
|
rs781510670 CA3403436 |
172 | V>L | No |
ClinGen ExAC |
|
|
CA3403438 TCGA novel rs374839569 |
174 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD |
|
CA360803861 rs144031153 |
175 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3403439 rs144031153 |
175 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360803872 rs1232090773 |
177 | M>V | No |
ClinGen gnomAD |
|
|
rs1256932895 CA360803889 |
179 | V>A | No |
ClinGen gnomAD |
|
|
CA3403441 rs774674579 |
179 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs456392 CA127189415 |
180 | Q>H | No |
ClinGen Ensembl |
|
|
rs369071242 CA3403442 |
182 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360803951 rs1221555462 |
188 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3403443 rs767803439 |
189 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs760482890 CA3403445 |
190 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360803964 rs760482890 |
190 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360803977 rs1463688956 |
192 | S>I | No |
ClinGen gnomAD |
|
|
rs1402254319 CA360803989 |
194 | E>K | No |
ClinGen gnomAD |
|
|
rs753702919 CA3403447 |
195 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1561538688 CA360804007 |
196 | F>V | No |
ClinGen Ensembl |
|
|
rs1311188875 CA360804018 |
197 | T>I | No |
ClinGen gnomAD |
|
|
CA3403449 rs147297796 |
199 | L>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3403450 rs752392368 |
200 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA360804033 rs1165832758 |
200 | F>V | No |
ClinGen TOPMed |
|
|
CA360804039 rs1316351753 |
201 | V>F | No |
ClinGen gnomAD |
|
|
CA3403452 rs777364340 |
203 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11568500 CA3403454 |
205 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746234716 CA3403453 |
205 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1470613805 CA360804079 |
207 | Q>R | No |
ClinGen TOPMed |
|
|
rs1250924770 CA360804085 |
208 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA360804093 rs1254003287 |
209 | S>Y | No |
ClinGen gnomAD |
|
|
CA3403457 rs143879161 |
210 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3403455 rs373520579 |
210 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360804106 rs1268670410 |
211 | Y>C | No |
ClinGen TOPMed |
|
|
rs148604311 CA3403459 |
212 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 213 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773512581 CA3403461 |
214 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA127189543 rs369732593 |
215 | F>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA360804173 rs1363033887 |
216 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs971664936 CA127189546 |
216 | I>T | No |
ClinGen Ensembl |
|
|
rs1277614992 CA360804183 |
217 | L>R | No |
ClinGen TOPMed |
|
|
rs765091021 CA3403483 |
224 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1247015501 CA360805850 |
225 | S>* | No |
ClinGen gnomAD |
|
|
CA360805848 rs1227771814 |
225 | S>A | No |
ClinGen TOPMed |
|
|
rs201467740 CA127194869 |
226 | V>A | No |
ClinGen 1000Genomes |
|
|
CA3403485 rs375988789 |
227 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3403486 rs143140136 |
227 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143140136 CA3403487 |
227 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756882520 CA3403488 |
229 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA360806005 rs1439791539 |
232 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs146705097 CA3403490 |
233 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1165991929 CA360806089 |
235 | V>A | No |
ClinGen gnomAD |
|
|
rs755317078 CA3403491 |
235 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 238 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575829481 CA3403492 |
240 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs541967934 CA3403493 |
241 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs985465185 CA127194926 |
241 | V>I | No |
ClinGen Ensembl |
|
|
CA127194933 rs938255394 |
242 | G>S | No |
ClinGen TOPMed |
|
|
CA127194939 rs910430619 |
243 | Y>C | No |
ClinGen gnomAD |
|
|
CA3403494 rs758587614 |
244 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA360806342 rs1370803250 |
244 | M>K | No |
ClinGen TOPMed |
|
|
rs771085988 CA3403497 |
248 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360806449 rs1369742257 |
248 | L>Q | No |
ClinGen TOPMed |
|
|
rs1369742257 CA360806457 |
248 | L>R | No |
ClinGen TOPMed |
|
|
rs1320877346 CA360806550 |
251 | Y>H | No |
ClinGen gnomAD |
|
|
CA3403499 rs372778380 |
253 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360806681 rs1457903578 |
255 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs368695578 CA127195020 |
256 | W>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs368695578 CA127195015 |
256 | W>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs762856391 CA3403502 |
256 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA127195030 rs1042175063 |
257 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3403503 rs768533971 |
257 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360806777 rs1580835597 |
258 | M>R | No |
ClinGen Ensembl |
|
|
CA360806773 rs1580835595 |
258 | M>V | No |
ClinGen Ensembl |
|
|
rs1196137286 CA360806801 |
259 | L>V | No |
ClinGen gnomAD |
|
|
CA360806844 rs1413597358 |
261 | L>P | No |
ClinGen gnomAD |
|
|
CA3403506 rs767093107 |
262 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs139188733 CA3403507 |
264 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360806933 rs1580835646 |
265 | V>G | No |
ClinGen Ensembl |
|
|
CA3403509 rs199535716 |
266 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs199535716 CA127195094 |
266 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3403511 rs758993571 |
268 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360807017 rs1475566776 |
270 | C>Y | No |
ClinGen gnomAD |
|
|
CA3403513 rs751593840 |
271 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3403512 rs375525577 |
271 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757302889 CA3403514 |
272 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561542143 CA360807049 |
273 | L>P | No |
ClinGen Ensembl |
|
|
CA3403515 rs368056012 |
274 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1270352048 CA360807059 CA360807061 |
275 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs11568503 CA3403539 |
282 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3403540 rs748090484 |
282 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM3365816 rs769645496 CA127197824 |
285 | I>T | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3403542 rs772796676 |
286 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357482407 CA360808148 |
287 | Q>R | No |
ClinGen gnomAD |
|
|
rs966280365 CA127197855 COSM589281 |
290 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3403543 rs746475008 |
292 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177561511 CA360808302 |
294 | E>Q | No |
ClinGen TOPMed |
|
|
CA360808379 rs1199372820 |
296 | I>T | No |
ClinGen gnomAD |
|
|
rs1459227779 CA360808364 |
296 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776363804 CA3403545 |
298 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763467165 CA3403546 |
298 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA3403547 rs201521490 |
301 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360808742 rs272893 |
306 | I>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_019528 rs272893 CA3403549 |
306 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1466844630 CA360808833 |
309 | P>L | No |
ClinGen gnomAD |
|
|
rs767872488 CA3403550 |
309 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA360808899 rs1331488861 |
312 | I>T | No |
ClinGen gnomAD |
|
|
CA3403551 rs750523509 |
313 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 315 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360809005 rs1390228100 |
316 | V>L | No |
ClinGen gnomAD |
|
|
rs1308244438 CA360809038 |
317 | E>G | No |
ClinGen TOPMed |
|
|
rs1254351424 CA360810462 |
318 | E>K | No |
ClinGen gnomAD |
|
|
rs1304037077 CA360810471 |
319 | L>V | No |
ClinGen gnomAD |
|
|
CA127200710 rs140888297 |
321 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA360810491 rs72552719 |
322 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs72552719 CA3403561 |
322 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA360810505 rs1223512276 |
324 | Q>R | No |
ClinGen TOPMed |
|
|
rs1400899418 CA360810508 |
325 | Q>K | No |
ClinGen gnomAD |
|
|
rs928054729 CA127200740 |
326 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1235545153 CA360810523 |
327 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 329 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA127200741 rs939403586 |
329 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360810549 rs1256647048 |
331 | D>N | No |
ClinGen gnomAD |
|
|
CA3403564 rs768949924 |
335 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1226059 CA3403566 rs762018264 |
336 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3403565 rs76343123 |
336 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA127200770 rs533127429 |
339 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs533127429 CA3403567 |
339 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1417308282 TCGA novel CA360810616 |
341 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs1448099125 CA360810614 |
341 | M>T | No |
ClinGen gnomAD |
|
|
CA360810611 rs1260645275 |
341 | M>V | No |
ClinGen gnomAD |
|
|
CA3403569 rs760813238 |
344 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs567645504 CA3403568 |
344 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 345 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434710965 CA360810648 |
346 | L>S | No |
ClinGen gnomAD |
|
|
rs1362938961 CA360810663 |
349 | W>R | No |
ClinGen gnomAD |
|
|
CA360810694 rs1389019783 |
351 | L>R | No |
ClinGen TOPMed |
|
|
rs1045002641 CA127202873 |
356 | Y>N | No |
ClinGen TOPMed |
|
|
CA127202899 rs989401134 |
357 | F>L | No |
ClinGen Ensembl |
|
|
rs1561546998 CA360810732 |
357 | F>S | No |
ClinGen Ensembl |
|
|
rs1419866118 CA360810740 |
358 | A>V | No |
ClinGen TOPMed |
|
|
CA3403592 rs752847081 |
362 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1379087309 CA360810767 |
363 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs150157940 CA127202923 |
365 | N>D | No |
ClinGen ESP |
|
|
rs1455179770 CA360810787 |
366 | L>S | No |
ClinGen TOPMed |
|
|
rs1306102734 CA360810793 |
367 | H>R | No |
ClinGen gnomAD |
|
|
CA3403593 rs762870150 |
367 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3403595 rs751596030 |
368 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3403594 rs575659970 |
368 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 369 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3403596 rs757282135 |
372 | L>V | No |
ClinGen ExAC |
|
|
CA3403598 rs191121049 |
376 | L>F | No |
ClinGen 1000Genomes ExAC |
|
|
rs1211335970 CA360810862 |
378 | A>T | No |
ClinGen gnomAD |
|
|
rs1239439300 COSM1619436 CA360810879 |
380 | I>T | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA127202948 rs913292303 |
391 | L>P | No |
ClinGen Ensembl |
|
|
rs1406350613 CA360810964 |
392 | L>S | No |
ClinGen gnomAD |
|
|
rs748864045 CA3403601 |
393 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3403602 rs772540855 |
393 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201507559 CA3403604 |
394 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778137526 CA3403603 |
394 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA127203074 rs1050150 |
395 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 397 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3403607 rs201371114 |
398 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3403608 rs769756304 |
398 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3403609 rs775819832 |
399 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1333758833 CA360811050 |
400 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 401 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA127203108 rs1018752372 |
401 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1580846228 CA360811086 |
404 | V>A | No |
ClinGen Ensembl |
|
|
CA360811111 rs1259500372 CA360811110 |
408 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1561547125 CA360811124 |
410 | G>S | No |
ClinGen Ensembl |
|
|
CA360811128 rs1402281020 |
411 | V>M | No |
ClinGen TOPMed |
|
|
rs1208576148 CA360811136 |
412 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1580846253 CA360811140 |
413 | L>V | No |
ClinGen Ensembl |
|
|
rs1203129583 CA360811150 |
414 | F>S | No |
ClinGen gnomAD |
|
|
rs751405490 CA3403612 |
416 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1580846285 CA360811173 |
418 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 418 | V>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767621862 CA3403614 |
421 | D>N | No |
ClinGen ExAC |
|
|
CA360811219 rs1174203906 |
423 | Y>N | No |
ClinGen gnomAD |
|
|
rs1374707896 CA360811237 |
425 | L>S | No |
ClinGen gnomAD |
|
|
CA127203914 rs997788324 |
427 | I>T | No |
ClinGen Ensembl |
|
|
CA3403639 rs147032697 RCV000239084 |
431 | M>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs889321160 CA127203929 |
432 | L>P | No |
ClinGen TOPMed |
|
|
rs753288548 COSM1226061 CA3403640 |
434 | K>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs754423266 CA3403641 |
435 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781386691 CA3403645 |
439 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1248614670 CA360811343 |
442 | S>P | No |
ClinGen gnomAD |
|
|
rs1006306275 CA127204010 |
443 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 448 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3403648 rs780552167 |
448 | T>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1671860 CA3403651 rs774755477 |
451 | L>P | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs772374561 CA360811410 |
452 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772374561 CA3403653 |
452 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3403652 rs748361558 |
452 | Y>H | No |
ClinGen ExAC |
|
|
rs772915647 CA3403654 |
453 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3403655 rs760456007 |
454 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA360811426 rs1369489678 |
455 | L>R | No |
ClinGen gnomAD |
|
|
CA3403656 rs138433908 |
455 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360811427 rs1561547712 |
456 | V>L | No |
ClinGen Ensembl |
|
|
rs759110538 CA3403658 |
457 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360811435 rs759110538 |
457 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764692894 CA3403659 |
457 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3403660 rs752394406 |
458 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA360811451 rs1469039549 |
459 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 459 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360811446 rs1292333967 |
459 | M>V | No |
ClinGen gnomAD |
|
|
CA3403661 rs200543879 COSM271528 |
460 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA360811463 rs202244640 |
461 | V>A | No |
ClinGen Ensembl |
|
|
CA127204162 rs202244640 |
461 | V>G | No |
ClinGen Ensembl |
|
|
VAR_019529 CA3403664 rs4646201 |
462 | G>E | abrogates TEA transport activity [UniProt] | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs200741625 CA127204171 |
463 | V>G | No |
ClinGen Ensembl |
|
|
rs143888295 CA3403665 |
464 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754367405 CA3403666 |
464 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA127204205 rs530272146 |
465 | S>P | No |
ClinGen 1000Genomes |
|
|
rs779159133 CA3403668 |
466 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA3403670 rs772432542 |
469 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA127204213 rs927124336 |
470 | V>M | No |
ClinGen Ensembl |
|
|
rs777989435 CA3403671 |
471 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA360811513 rs1324714637 |
471 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 475 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 475 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3403673 rs770752876 |
480 | Y>C | No |
ClinGen ExAC |
|
|
CA3403675 rs148341373 |
482 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1282310711 CA360812725 |
483 | A>T | No |
ClinGen gnomAD |
|
|
CA360812745 rs1485879489 |
484 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs775348982 CA3403698 |
485 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3403699 rs557926964 |
487 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360812859 rs1561550111 |
488 | L>P | No |
ClinGen Ensembl |
|
|
rs375225322 CA3403700 |
491 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767034234 CA3403703 |
492 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA3403702 rs188858026 |
492 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1434516705 CA360812949 |
493 | M>L | No |
ClinGen gnomAD |
|
|
rs375398349 CA3403705 |
493 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753255483 CA3403707 |
498 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs765906886 CA3403706 |
498 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324777201 CA360813080 |
500 | I>N | No |
ClinGen gnomAD |
|
|
rs764214038 CA3403709 |
502 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 505 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360813189 rs1310924815 |
505 | L>P | No |
ClinGen TOPMed |
|
|
CA360813207 rs1486682576 |
506 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs745677209 CA3403714 |
507 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs72552721 | 507 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360813231 rs1260534073 |
508 | P>S | No |
ClinGen gnomAD |
|
|
CA3403715 rs755898461 |
509 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1194913602 CA360813304 |
512 | G>R | No |
ClinGen gnomAD |
|
|
rs558087632 CA3403716 |
515 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs558087632 CA127207340 |
515 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1222519486 COSM1696188 CA360813376 |
516 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3403717 rs749225329 |
519 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA360813428 rs201132879 |
520 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3403718 rs201132879 |
520 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360813510 rs146182196 |
523 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3403719 rs773940777 |
523 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417616941 CA360813504 |
523 | Q>L | No |
ClinGen TOPMed |
|
|
CA360813605 rs1393816655 |
527 | W>* | No |
ClinGen gnomAD |
|
|
CA3403721 rs771861252 |
527 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3403722 rs771861252 |
527 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360813627 rs1313590881 |
530 | S>C | No |
ClinGen gnomAD |
|
|
CA3403738 rs747748208 |
542 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3403737 rs778655134 |
542 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1002802691 CA127208887 |
544 | P>S | No |
ClinGen Ensembl |
|
|
CA360813763 rs1381971522 |
550 | A>E | No |
ClinGen TOPMed |
|
|
rs1446542313 CA360813775 |
552 | F>R | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q9H015
[MIM: 180300]: Rheumatoid arthritis (RA)
An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. {ECO:0000269|PubMed:14608356}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. {ECO:0000269|PubMed:14608356}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| 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. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| amino acid transmembrane transporter activity | Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| carnitine transmembrane transporter activity | Enables the transfer of carnitine across a membrane. Carnitine is a compound that participates in the transfer of acyl groups across the inner mitochondrial membrane. |
| PDZ domain binding | Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins. |
| quaternary ammonium group transmembrane transporter activity | Enables the transfer of quaternary ammonium groups from one side of a membrane to the other. Quaternary ammonium groups are any compound that can be regarded as derived from ammonium hydroxide or an ammonium salt by replacement of all four hydrogen atoms of the NH4+ ion by organic groups. |
| secondary active organic cation transmembrane transporter activity | Enables the transfer of organic cations from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. |
| symporter activity | Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| amino acid import across plasma membrane | The directed movement of an amino acid from outside of a cell, across the plasma membrane and into the cytosol. |
| carnitine metabolic process | The chemical reactions and pathways involving carnitine (hydroxy-trimethyl aminobutyric acid), a compound that participates in the transfer of acyl groups across the inner mitochondrial membrane. |
| carnitine transport | The directed movement of carnitine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carnitine is a compound that participates in the transfer of acyl groups across the inner mitochondrial membrane. |
| quaternary ammonium group transport | The directed movement into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore of quaternary ammonium compounds, any compound that can be regarded as derived from ammonium hydroxide or an ammonium salt by replacement of all four hydrogen atoms of the NH4+ ion by organic groups. |
| sodium ion transport | The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| triglyceride metabolic process | The chemical reactions and pathways involving triglyceride, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triglycerides are important components of plant oils, animal fats and animal plasma lipoproteins. |
| xenobiotic transport | The directed movement of a xenobiotic into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. 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. |
18 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q17QN9 | SLC22A16 | Solute carrier family 22 member 16 | Bos taurus (Bovine) | PR |
| Q1JP63 | SVOP | Synaptic vesicle 2-related protein | Bos taurus (Bovine) | PR |
| Q7L1I2 | SV2B | Synaptic vesicle glycoprotein 2B | Homo sapiens (Human) | PR |
| Q496J9 | SV2C | Synaptic vesicle glycoprotein 2C | Homo sapiens (Human) | PR |
| A6NKX4 | SLC22A31 | Putative solute carrier family 22 member 31 | Homo sapiens (Human) | PR |
| Q8N4V2 | SVOP | Synaptic vesicle 2-related protein | Homo sapiens (Human) | PR |
| Q8N434 | SVOPL | Putative transporter SVOPL | Homo sapiens (Human) | PR |
| Q9Z0E8 | Slc22a5 | Solute carrier family 22 member 5 | Mus musculus (Mouse) | PR |
| Q9D9E0 | Slc22a17 | Solute carrier family 22 member 17 | Mus musculus (Mouse) | PR |
| Q8BFT9 | Svop | Synaptic vesicle 2-related protein | Mus musculus (Mouse) | PR |
| Q497L8 | Slc22a16 | Solute carrier family 22 member 16 | Mus musculus (Mouse) | PR |
| Q69ZS6 | Sv2c | Synaptic vesicle glycoprotein 2C | Mus musculus (Mouse) | PR |
| Q9Z306 | Slc22a4 | Solute carrier family 22 member 4 | Mus musculus (Mouse) | PR |
| Q70BM6 | SLC22A8 | Organic anion transporter 3 | Sus scrofa (Pig) | PR |
| Q9Z2I7 | Svop | Synaptic vesicle 2-related protein | Rattus norvegicus (Rat) | PR |
| Q9Z2I6 | Sv2c | Synaptic vesicle glycoprotein 2C | Rattus norvegicus (Rat) | PR |
| Q9R141 | Slc22a4 | Solute carrier family 22 member 4 | Rattus norvegicus (Rat) | PR |
| Q7Z118 | B0361.11 | Putative transporter B0361.11 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRDYDEVIAF | LGEWGPFQRL | IFFLLSASII | PNGFNGMSVV | FLAGTPEHRC | RVPDAANLSS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AWRNNSVPLR | LRDGREVPHS | CSRYRLATIA | NFSALGLEPG | RDVDLGQLEQ | ESCLDGWEFS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QDVYLSTVVT | EWNLVCEDNW | KVPLTTSLFF | VGVLLGSFVS | GQLSDRFGRK | NVLFATMAVQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TGFSFLQIFS | ISWEMFTVLF | VIVGMGQISN | YVVAFILGTE | ILGKSVRIIF | STLGVCTFFA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VGYMLLPLFA | YFIRDWRMLL | LALTVPGVLC | VPLWWFIPES | PRWLISQRRF | REAEDIIQKA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AKMNNIAVPA | VIFDSVEELN | PLKQQKAFIL | DLFRTRNIAI | MTIMSLLLWM | LTSVGYFALS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LDAPNLHGDA | YLNCFLSALI | EIPAYITAWL | LLRTLPRRYI | IAAVLFWGGG | VLLFIQLVPV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DYYFLSIGLV | MLGKFGITSA | FSMLYVFTAE | LYPTLVRNMA | VGVTSTASRV | GSIIAPYFVY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LGAYNRMLPY | IVMGSLTVLI | GILTLFFPES | LGMTLPETLE | QMQKVKWFRS | GKKTRDSMET |
| 550 | |||||
| EENPKVLITA | F |