P23975
PR
Gene name |
SLC6A2 (NAT1, NET1, SLC6A5) |
Protein name |
Sodium-dependent noradrenaline transporter |
Names |
Norepinephrine transporter, NET, Solute carrier family 6 member 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6530 |
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 P23975
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P23975-F1 | Predicted | AlphaFoldDB |
385 variants for P23975
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000015043 VAR_010022 rs121918126 CA123699 |
457 | A>P | Neurocirculatory asthenia OI; loss of function [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA395947895 RCV000490050 rs1085307494 RCV000509239 |
528 | F>L | SLC6A2-related disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs779105469 CA8061329 |
3 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8061330 rs748234681 |
4 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337637568 COSM349205 COSM349204 CA395945050 |
6 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1310619442 CA395945046 |
6 | M>L | No |
ClinGen gnomAD |
|
|
rs11568323 RCV002928251 CA8061331 VAR_029157 |
7 | N>K | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA395945065 rs1352240042 |
8 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA395945062 rs1309134108 |
8 | P>S | No |
ClinGen gnomAD |
|
|
CA395945074 COSM119689 rs1281511940 |
10 | V>L | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1198391610 CA395945083 |
11 | Q>P | No |
ClinGen gnomAD |
|
|
CA8061334 rs747194482 |
12 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA395945091 rs1401120387 |
12 | P>L | No |
ClinGen TOPMed |
|
|
CA8061333 rs747194482 |
12 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1380293216 CA395945096 |
13 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746448696 CA8061336 |
15 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA281437295 COSM334037 COSM334036 rs761330183 |
16 | G>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA395945115 rs775913156 CA8061338 |
16 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8061339 rs761330183 |
16 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs775913156 CA395945116 |
16 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1005999367 CA281437309 |
17 | A>T | No |
ClinGen TOPMed |
|
|
COSM1378396 COSM1378395 CA8061342 rs760211721 |
17 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs886052131 CA10638035 |
18 | D>H | No |
ClinGen gnomAD |
|
|
rs886052131 CA395945122 |
18 | D>N | No |
ClinGen gnomAD |
|
|
rs1471605744 CA395945133 |
19 | T>R | No |
ClinGen TOPMed |
|
|
CA8061345 rs755008593 |
21 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1016933069 CA281437332 |
21 | P>L | No |
ClinGen Ensembl |
|
|
rs765091101 CA8061346 |
23 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA8061347 rs752623661 |
24 | P>L | No |
ClinGen ExAC |
|
|
rs1302354762 CA395945162 |
24 | P>S | No |
ClinGen gnomAD |
|
|
rs963288063 COSM971577 CA281437355 COSM971578 |
26 | R>W | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs371171390 CA8061348 |
27 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1480785470 CA395945183 |
28 | R>H | No |
ClinGen gnomAD |
|
|
rs1596935471 CA395945187 |
29 | K>E | No |
ClinGen Ensembl |
|
|
rs1235830773 CA395945190 |
29 | K>R | No |
ClinGen gnomAD |
|
|
CA395945197 rs1469734773 |
30 | T>N | No |
ClinGen gnomAD |
|
|
rs13306039 CA281437372 |
31 | A>P | No |
ClinGen Ensembl |
|
|
rs1596935532 CA395945202 |
31 | A>V | No |
ClinGen Ensembl |
|
|
rs1194211108 CA395945206 |
32 | E>Q | No |
ClinGen gnomAD |
|
|
CA8061350 rs747286304 |
34 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207318458 CA395945239 |
37 | K>R | No |
ClinGen TOPMed |
|
|
rs781670841 CA8061352 |
38 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs746225269 CA8061353 |
39 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs746225269 CA395945253 |
39 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs376306835 CA395945254 |
40 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376306835 CA8061355 |
40 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8061357 rs771608350 |
41 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA8061358 rs757554109 |
41 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8061361 rs549056542 |
42 | V>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs770482976 CA8061360 |
42 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770482976 CA395945265 |
42 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 43 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759261425 CA8061362 |
44 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs762963131 CA8061365 |
46 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1367013411 CA395945303 |
48 | P>R | No |
ClinGen TOPMed |
|
|
rs764328025 CA8061366 |
49 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395219019 CA395945329 |
52 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs567467337 CA8061369 |
52 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756462195 CA395945343 |
54 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
rs780362254 CA8061372 |
55 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 59 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395945381 rs1463073539 |
60 | G>D | No |
ClinGen gnomAD |
|
|
CA8061373 rs529030819 |
61 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA395945387 rs1596935975 |
61 | K>R | No |
ClinGen Ensembl |
|
|
rs1805064 VAR_011756 CA8061375 |
69 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1042641968 CA281437493 |
77 | A>D | No |
ClinGen Ensembl |
|
|
CA395945499 rs1275882571 |
78 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs776169724 CA8061378 |
81 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1168097301 CA395945534 |
83 | P>L | No |
ClinGen TOPMed |
|
|
rs1228382244 CA395945535 |
84 | Y>N | No |
ClinGen gnomAD |
|
|
CA281437512 rs775413768 |
89 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395945583 rs1187139074 |
90 | G>D | No |
ClinGen TOPMed |
|
|
CA395945592 rs1487821001 |
92 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1352972330 CA395947550 |
93 | A>V | No |
ClinGen gnomAD |
|
|
CA8061398 rs775219126 |
97 | P>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000958718 VAR_011757 CA8061401 rs1805065 |
99 | T>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1596961534 CA395947652 |
102 | L>F | No |
ClinGen Ensembl |
|
|
rs773325382 CA8061404 |
104 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766590921 CA8061406 |
105 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1226534 CA395947706 rs1439637030 COSM1226533 |
105 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA395947752 rs1397308523 |
108 | P>T | No |
ClinGen gnomAD |
|
|
rs1426098658 CA395947786 |
111 | Y>H | No |
ClinGen gnomAD |
|
|
CA8061408 rs755356789 |
112 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA395947946 rs1331457496 |
120 | N>Y | No |
ClinGen gnomAD |
|
|
rs758931200 CA8061411 |
121 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs13306041 CA8061413 |
121 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1563600 rs758931200 CA8061412 COSM1563601 |
121 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 124 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395947985 rs755629703 |
124 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA8061414 rs755629703 |
124 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1318573418 CA395948001 |
126 | T>N | No |
ClinGen TOPMed |
|
|
CA8061415 rs375910266 |
127 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA395948082 rs1278186561 |
131 | C>W | No |
ClinGen gnomAD |
|
|
CA281443807 rs371816283 |
137 | V>I | No |
ClinGen ESP gnomAD |
|
|
CA395948988 rs1341117066 |
140 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM293430 rs1353298980 COSM293429 CA395949047 |
145 | A>T | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1387138196 CA395949117 |
148 | V>I | No |
ClinGen TOPMed |
|
|
CA8061468 rs774839085 COSM971590 COSM971589 |
157 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 159 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255820028 CA395949425 |
163 | L>F | No |
ClinGen TOPMed |
|
|
rs569629600 CA8061471 |
165 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764610941 CA8061473 |
168 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA395949479 rs1304776864 |
168 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA395949477 rs1304776864 |
168 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA395949475 rs764610941 |
168 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA281443871 rs74939618 |
170 | N>T | No |
ClinGen Ensembl |
|
|
rs201164617 CA8061476 |
175 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751359188 CA8061477 |
177 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 183 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567436886 CA395949751 |
183 | P>T | No |
ClinGen Ensembl |
|
|
CA8061479 rs756987174 |
184 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198156989 CA395949855 |
186 | T>I | No |
ClinGen gnomAD |
|
|
rs745749526 CA8061481 |
188 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA395949899 rs1176595462 CA395949900 |
189 | K>N | No |
ClinGen gnomAD |
|
|
CA8061483 rs779971243 |
189 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395949903 rs1378367115 |
190 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA395949976 rs1394531249 |
194 | S>C | No |
ClinGen TOPMed |
|
|
CA395949979 rs1394531249 |
194 | S>F | No |
ClinGen TOPMed |
|
|
CA395949983 rs1174317538 |
195 | V>M | No |
ClinGen gnomAD |
|
|
rs1466256660 CA395950010 |
197 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA281443897 rs921162529 |
197 | G>V | No |
ClinGen Ensembl |
|
|
CA8061485 rs768999362 |
198 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs774651227 CA8061486 |
199 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA395950055 rs1371897364 |
199 | H>Y | No |
ClinGen gnomAD |
|
|
CA395950086 rs1302416109 |
200 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA395950084 rs1302416109 |
200 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395950131 rs1330106182 |
203 | S>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748539486 CA395950214 |
207 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs772518188 CA8061488 |
208 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761057170 CA8061490 |
209 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762458339 CA8061493 |
211 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA8061492 rs188235131 |
211 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM79415 rs1432771211 CA395950279 |
212 | E>* | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA395950282 rs1432771211 |
212 | E>K | No |
ClinGen gnomAD |
|
|
rs767399475 CA8061514 |
216 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8061515 rs763105657 |
216 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA395941318 rs1357269177 |
220 | H>N | No |
ClinGen gnomAD |
|
|
CA8061520 rs370103306 |
223 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM971591 rs200894116 COSM95253 CA8061519 |
223 | E>K | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374968647 CA281414838 |
224 | S>N | No |
ClinGen ESP TOPMed |
|
|
rs374968647 CA395941402 |
224 | S>T | No |
ClinGen ESP TOPMed |
|
|
CA395941424 rs1164415918 |
225 | S>N | No |
ClinGen TOPMed |
|
|
rs557196282 CA281414845 COSM1378399 COSM1378400 |
226 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs758679941 CA8061523 |
228 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8061524 rs777985108 |
229 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8061525 rs747347135 |
230 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA8061526 rs747347135 |
230 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA281414858 rs997591161 |
231 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395941624 rs1156456177 |
234 | Q>H | No |
ClinGen gnomAD |
|
|
rs773834750 CA8061530 |
235 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs761516316 CA8061531 |
236 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA8061532 rs771631610 |
236 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8061533 rs772866261 |
237 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA395941719 rs1290698751 |
239 | L>F | No |
ClinGen TOPMed |
|
|
CA8061536 rs766160218 |
239 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA395941740 rs1282393750 |
240 | C>S | No |
ClinGen gnomAD |
|
|
CA8061537 rs753867871 |
242 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA395941804 rs1596991426 |
243 | V>G | No |
ClinGen Ensembl |
|
|
rs752820207 CA8061540 |
244 | V>A | No |
ClinGen ExAC gnomAD |
|
|
COSM971593 COSM971592 CA8061539 rs148722045 |
244 | V>I | Variant assessed as Somatic; 0.0001848 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_011758 CA8061541 RCV000948438 rs1805066 |
245 | V>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8061542 COSM3691055 rs11568341 COSM3691054 |
247 | V>I | Variant assessed as Somatic; 9.243e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8061544 rs757601350 |
252 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8061546 rs746429123 |
255 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs373891109 CA281414934 |
258 | T>I | No |
ClinGen ESP TOPMed |
|
|
rs770277856 CA8061547 COSM95254 |
260 | G>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA395942987 rs1567451801 |
265 | I>V | No |
ClinGen Ensembl |
|
|
rs565379784 CA281417560 |
268 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs1555505144 CA8061568 |
270 | P>S | No |
ClinGen Ensembl |
|
|
rs757889521 CA8061570 |
273 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777317001 CA8061571 |
275 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA395943066 rs770612314 |
276 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8061573 rs770612314 |
276 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567451896 CA395943082 |
277 | L>F | No |
ClinGen Ensembl |
|
|
rs769672253 CA8061576 |
279 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs533120644 CA8061578 |
281 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8061580 rs372107270 |
282 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs45564432 CA395943189 |
283 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8061581 COSM3818108 rs45564432 COSM3818107 |
283 | T>M | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV000887054 VAR_020048 CA8061582 rs45564432 |
283 | T>R | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA395943192 rs1245613776 |
284 | L>Q | No |
ClinGen gnomAD |
|
|
CA281417605 rs767139131 |
285 | P>S | No |
ClinGen gnomAD |
|
|
rs886052133 CA10648617 |
286 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1260656057 CA395943209 |
287 | A>V | No |
ClinGen gnomAD |
|
|
rs754354591 CA8061586 |
288 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA281417631 CA8061588 rs567119800 |
289 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs77951841 CA8061587 |
289 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1220462304 CA395943226 |
290 | G>D | No |
ClinGen TOPMed |
|
|
CA281417634 rs5563 VAR_011759 |
292 | N>T | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs201263363 CA281417644 |
294 | Y>H | No |
ClinGen 1000Genomes |
|
|
CA395943273 rs1457234484 |
296 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA395943276 rs1161401734 |
297 | I>V | No |
ClinGen gnomAD |
|
|
CA8061591 rs781023132 |
298 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769759246 CA8061593 |
299 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395943364 rs1336250273 |
301 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8061595 COSM1162534 rs147833183 COSM1162533 |
301 | R>H | lung Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1336250273 CA395943359 |
301 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8061596 rs768638736 |
302 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 302 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205933782 CA395943826 |
311 | A>D | No |
ClinGen TOPMed |
|
|
CA8061621 rs776659407 |
312 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395943834 rs1259845387 |
313 | T>P | No |
ClinGen gnomAD |
|
|
rs765486927 CA8061623 |
314 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA8061622 rs759975667 |
314 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA395943858 rs1201239658 |
316 | F>L | No |
ClinGen gnomAD |
|
|
rs753295094 CA8061624 |
316 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 317 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 318 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395943873 rs1567453621 |
318 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1480143603 CA395943885 |
320 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1480143603 CA395943884 |
320 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA281418539 rs1000075742 |
321 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 324 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395943991 rs1394760730 |
329 | F>L | No |
ClinGen gnomAD |
|
|
rs1297916912 CA395943983 |
329 | F>V | No |
ClinGen gnomAD |
|
|
rs755623411 CA8061628 |
334 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA395944132 rs1303363327 |
339 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 339 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344485924 CA395944168 |
341 | R>T | No |
ClinGen gnomAD |
|
|
rs535798645 CA281419100 |
342 | D>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA395944207 COSM3957653 rs1395190746 COSM3957652 |
343 | A>D | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA395944237 rs1244100386 |
348 | S>N | No |
ClinGen gnomAD |
|
|
rs765149201 CA8061650 |
352 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA8061651 rs556977358 |
353 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs11568336 CA395944290 |
355 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8061653 rs5565 |
356 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs5565 VAR_011760 CA281419106 |
356 | V>L | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA281419111 rs769378838 |
359 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8061656 rs781117492 |
360 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA395944315 rs1345478335 COSM1563597 COSM1563596 |
360 | A>T | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8061657 rs772833810 |
361 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1453319253 CA395944343 |
364 | I>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 368 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs5566 CA281419136 VAR_011761 |
369 | A>P | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA395944378 rs1380271338 |
369 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 371 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420626451 CA395944401 |
372 | H>R | No |
ClinGen TOPMed |
|
|
rs759956740 CA281419141 |
372 | H>Y | No |
ClinGen Ensembl |
|
|
rs5567 CA281419155 VAR_011762 |
375 | N>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs749688238 CA8061660 |
376 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769097694 CA8061661 |
378 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1194575814 CA395944446 |
379 | V>M | No |
ClinGen Ensembl |
|
|
CA8061663 rs762392439 |
381 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1180689516 CA395944491 |
384 | A>S | No |
ClinGen TOPMed |
|
|
CA281419753 rs922258304 |
389 | I>F | No |
ClinGen TOPMed |
|
|
CA395944560 rs922258304 |
389 | I>V | No |
ClinGen TOPMed |
|
|
rs763942727 CA8061687 |
391 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA395944608 rs1210623428 |
392 | P>L | No |
ClinGen TOPMed |
|
|
rs1353674022 CA395944628 |
394 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA395944645 rs1296654929 |
395 | I>F | No |
ClinGen gnomAD |
|
|
CA395944655 rs1347635973 |
396 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA281419794 rs747367200 |
399 | S>P | No |
ClinGen Ensembl |
|
|
CA8061690 rs767373492 |
400 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8061691 rs750332509 |
401 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs144874378 CA8061693 |
402 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1202940598 CA395944828 |
409 | F>S | No |
ClinGen gnomAD |
|
|
CA8061696 rs779214226 |
410 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198001440 CA395944877 |
412 | L>H | No |
ClinGen gnomAD |
|
|
CA8061699 rs201586185 |
414 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395944991 rs1165245213 |
420 | S>L | No |
ClinGen gnomAD |
|
|
CA281420708 rs17855051 |
425 | E>* | No |
ClinGen Ensembl |
|
|
rs1163523850 CA395946091 |
428 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1282980841 CA395946096 |
428 | I>T | No |
ClinGen gnomAD |
|
|
CA395946124 rs1243734001 |
432 | A>V | No |
ClinGen gnomAD |
|
|
rs1304663241 CA395946137 |
434 | D>G | No |
ClinGen TOPMed |
|
|
rs938372864 CA281420718 |
440 | R>Q | No |
ClinGen gnomAD |
|
|
CA8061725 rs773057391 |
441 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA395946182 rs1181525620 |
441 | H>Y | No |
ClinGen gnomAD |
|
|
rs1471300442 CA395946197 |
442 | R>Q | No |
ClinGen gnomAD |
|
|
CA8061726 rs760483255 |
444 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395946261 rs1364936310 |
447 | F>S | No |
ClinGen TOPMed |
|
|
rs2234910 CA8061730 VAR_014800 |
449 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8061731 rs752912569 |
454 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452302692 CA395946400 |
454 | F>S | No |
ClinGen gnomAD |
|
|
CA8061732 rs758641192 |
456 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs121918126 CA8061735 |
457 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs121918126 CA8061734 |
457 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1597013136 CA395946490 |
458 | L>V | No |
ClinGen Ensembl |
|
|
CA395946552 rs1347903040 |
461 | I>V | No |
ClinGen gnomAD |
|
|
CA8061737 rs746339091 |
462 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs5570 VAR_011763 CA281420770 |
463 | K>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1344311446 CA395946815 |
464 | G>D | No |
ClinGen gnomAD |
|
|
CA395946832 rs1297555256 |
465 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA395946875 rs1308020688 |
466 | I>N | No |
ClinGen gnomAD |
|
|
COSM2835450 rs201885636 CA8061762 COSM2835451 |
468 | V>I | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs142830579 CA8061764 |
469 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395946979 rs1292852828 |
471 | L>R | No |
ClinGen gnomAD |
|
|
CA8061767 rs745590713 |
474 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA281420981 rs865845979 |
477 | A>V | No |
ClinGen Ensembl |
|
|
CA8061768 VAR_011764 rs1805067 |
478 | G>S | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA395947069 rs1355174796 |
481 | I>L | No |
ClinGen TOPMed |
|
|
rs1427014653 CA395947117 |
485 | V>A | No |
ClinGen gnomAD |
|
|
CA8061770 rs759824538 |
486 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395947139 rs768583766 |
487 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290141855 CA395947148 |
487 | M>T | No |
ClinGen gnomAD |
|
|
CA8061771 rs768583766 |
487 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774602224 CA8061772 |
488 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8061773 rs762006683 |
489 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8061774 rs767934280 |
490 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA281421019 rs866413761 |
491 | G>E | No |
ClinGen Ensembl |
|
|
CA395947205 rs1246524447 |
491 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA395947228 rs1383965031 |
493 | S>A | No |
ClinGen gnomAD |
|
|
CA395947248 rs1015342851 |
494 | W>* | No |
ClinGen gnomAD |
|
|
rs1015342851 CA281421021 |
494 | W>S | No |
ClinGen gnomAD |
|
|
CA8061796 rs766622152 |
498 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8061799 rs573586347 |
503 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA281421435 rs1044242185 |
503 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 506 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 506 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200047333 CA395947456 |
508 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 510 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8061802 rs756538705 |
514 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs756538705 CA281421452 |
514 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs755982579 CA8061804 |
516 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220398215 CA395947574 |
518 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 519 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395947771 rs149350009 |
524 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149350009 CA8061805 |
524 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1278609213 CA395947849 |
527 | A>T | No |
ClinGen gnomAD |
|
|
CA281421471 VAR_011765 rs5558 |
528 | F>C | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA395948149 rs1271331989 |
532 | V>E | No |
ClinGen gnomAD |
|
|
rs1433462368 CA395948148 |
532 | V>M | No |
ClinGen gnomAD |
|
|
rs1365599231 CA395948159 |
533 | V>F | No |
ClinGen TOPMed |
|
|
CA395948215 rs1226732670 |
537 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8061831 rs576732054 |
537 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1226732670 CA395948217 |
537 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA281421811 rs781424360 |
539 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8061833 rs781424360 |
539 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8061834 rs746264543 |
542 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA395948316 rs1448277457 |
543 | L>F | No |
ClinGen gnomAD |
|
|
rs368151884 CA281421834 |
546 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776187250 CA8061836 |
546 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771771446 CA395948375 |
547 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771771446 CA8061838 |
547 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs5559 CA281421838 VAR_011766 |
548 | Y>H | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs765973008 CA8061841 |
549 | I>M | No |
ClinGen ExAC gnomAD |
|
|
VAR_021861 CA8061840 rs3743788 |
549 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8061842 rs753493402 |
551 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388569187 CA395948525 |
552 | P>H | No |
ClinGen gnomAD |
|
|
rs1388569187 CA395948535 |
552 | P>L | No |
ClinGen gnomAD |
|
|
CA281421869 rs965020861 |
552 | P>S | No |
ClinGen gnomAD |
|
|
CA395948521 rs965020861 |
552 | P>T | No |
ClinGen gnomAD |
|
|
rs1276244155 CA395948588 |
555 | N>S | No |
ClinGen TOPMed |
|
|
rs764998797 CA8061844 |
557 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs758328228 CA281421898 |
560 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8061846 rs758328228 |
560 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA8061848 rs777700352 |
561 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144701163 COSM191695 COSM191694 CA8061849 |
562 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780557293 CA8061854 |
569 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs267604578 CA281421931 |
571 | I>V | No |
ClinGen TOPMed |
|
|
CA395948965 rs1441678256 |
572 | Y>C | No |
ClinGen gnomAD |
|
|
rs749595008 CA8061855 |
572 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA8061857 rs369332074 |
573 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM247424 rs369332074 CA8061856 COSM247425 |
573 | V>I | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs760136076 CA8061858 |
574 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA395949068 rs1247777403 |
575 | Y>C | No |
ClinGen TOPMed |
|
|
rs776196629 CA8061860 |
578 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs759180002 CA8061861 |
579 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs765086825 CA8061862 |
580 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM323448 COSM323447 CA8061863 rs148686754 |
580 | T>M | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201019775 CA8061865 |
581 | Q>K | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 582 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395949282 rs1409849049 |
583 | S>F | No |
ClinGen gnomAD |
|
|
CA395949341 rs1221337777 |
586 | E>K | No |
ClinGen gnomAD |
|
|
CA8061891 rs144546216 |
589 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748674050 CA8061892 COSM1378410 COSM1378411 |
589 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1301522557 CA395950906 |
590 | Y>C | No |
ClinGen TOPMed |
|
|
CA8061893 rs758951794 |
593 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA395950959 rs769261259 |
595 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1460364336 CA395950954 |
595 | E>Q | No |
ClinGen TOPMed |
|
|
rs748953037 CA8061899 |
597 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA8061898 rs748953037 |
597 | E>K | No |
ClinGen ExAC gnomAD |
|
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rs774201155 CA8061900 |
599 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373241242 CA8061901 |
600 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8061902 CA8061903 RCV001489264 rs201793493 |
601 | V>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
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CA395950994 rs201793493 |
601 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8061904 rs760879679 |
604 | R>M | No |
ClinGen ExAC gnomAD |
|
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rs1597019012 CA395951026 |
606 | I>L | No |
ClinGen Ensembl |
|
|
rs1264558480 CA395951046 |
608 | Q>H | No |
ClinGen TOPMed gnomAD |
|
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rs139680023 CA8061906 RCV000914061 |
609 | F>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1597019792 CA395951085 |
612 | Q>R | No |
ClinGen Ensembl |
|
|
CA395951111 rs1456610284 |
616 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1597019814 CA395951117 |
617 | I>L | No |
ClinGen Ensembl |
|
|
rs759479950 CA8061924 |
617 | I>N | No |
ClinGen ExAC gnomAD |
1 associated diseases with P23975
[MIM: 604715]: Orthostatic intolerance (OI)
Syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. It is associated with postural tachycardia. Plasma norepinephrine concentration is abnormally high. {ECO:0000269|PubMed:10684912}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. It is associated with postural tachycardia. Plasma norepinephrine concentration is abnormally high. {ECO:0000269|PubMed:10684912}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P23975
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P23975 | |||
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell surface | The external part of the cell wall and/or plasma membrane. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| neuronal cell body membrane | The plasma membrane of a neuron cell body - excludes the plasma membrane of cell projections such as axons and dendrites. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynaptic membrane | A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| alpha-tubulin binding | Binding to the microtubule constituent protein alpha-tubulin. |
| beta-tubulin binding | Binding to the microtubule constituent protein beta-tubulin. |
| dopamine:sodium symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: dopamine(out) + Na+(out) + Cl-(out)= dopamine(in) + Na+(in) + Cl-(in). |
| metal ion binding | Binding to a metal ion. |
| monoamine transmembrane transporter activity | Enables the transfer of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), from one side of a membrane to the other. |
| neurotransmitter transmembrane transporter activity | Enables the directed movement of a neurotransmitter into, out of or within a cell, or between cells. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. |
| neurotransmitter:sodium symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: neurotransmitter(out) + Na+(out) = neurotransmitter(in) + Na+(in). |
| norepinephrine:sodium symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: norepinephrine(out) + Na+(out) + Cl-(out) = norepinephrine(in) + Na+(in) + Cl-(in). |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| dopamine uptake involved in synaptic transmission | The directed movement of dopamine into a presynaptic neuron or glial cell. In this context, dopamine is a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. |
| monoamine transport | The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| neuron cellular homeostasis | The cellular homeostatic process that preserves a neuron in a stable, differentiated functional and structural state. |
| neurotransmitter transport | The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. |
| norepinephrine transport | The directed movement of norepinephrine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Norepinephrine (3,4-dihydroxyphenyl-2-aminoethanol) is a hormone secreted by the adrenal medulla and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS. It is also the biosynthetic precursor of epinephrine. |
| norepinephrine uptake | The directed movement of norepinephrine into a cell, typically presynaptic neurons or glial cells. Norepinephrine (3,4-dihydroxyphenyl-2-aminoethanol) is a hormone secreted by the adrenal medulla and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS. It is also the biosynthetic precursor of epinephrine. |
| response to pain | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a pain stimulus. Pain stimuli cause activation of nociceptors, peripheral receptors for pain, include receptors which are sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, 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. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9XS59 | SLC6A15 | Sodium-dependent neutral amino acid transporter B(0)AT2 | Bos taurus (Bovine) | PR |
| P51143 | SLC6A2 | Sodium-dependent noradrenaline transporter | Bos taurus (Bovine) | PR |
| Q9Y345 | SLC6A5 | Sodium- and chloride-dependent glycine transporter 2 | Homo sapiens (Human) | PR |
| Q9UN76 | SLC6A14 | Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) | Homo sapiens (Human) | PR |
| P30531 | SLC6A1 | Sodium- and chloride-dependent GABA transporter 1 | Homo sapiens (Human) | PR |
| P48029 | SLC6A8 | Sodium- and chloride-dependent creatine transporter 1 | Homo sapiens (Human) | PR |
| Q9NSD5 | SLC6A13 | Sodium- and chloride-dependent GABA transporter 2 | Homo sapiens (Human) | PR |
| P48066 | SLC6A11 | Sodium- and chloride-dependent GABA transporter 3 | Homo sapiens (Human) | PR |
| P31641 | SLC6A6 | Sodium- and chloride-dependent taurine transporter | Homo sapiens (Human) | PR |
| Q9H2J7 | SLC6A15 | Sodium-dependent neutral amino acid transporter B(0)AT2 | Homo sapiens (Human) | PR |
| Q9H1V8 | SLC6A17 | Sodium-dependent neutral amino acid transporter SLC6A17 | Homo sapiens (Human) | PR |
| Q9GZN6 | SLC6A16 | Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 | Homo sapiens (Human) | PR |
| Q9D687 | Slc6a19 | Sodium-dependent neutral amino acid transporter B(0)AT1 | Mus musculus (Mouse) | PR |
| O88576 | Slc6a18 | Sodium-dependent neutral amino acid transporter B(0)AT3 | Mus musculus (Mouse) | PR |
| O88575 | Slc6a20b | Sodium- and chloride-dependent transporter XTRP3B | Mus musculus (Mouse) | PR |
| Q8BJI1 | Slc6a17 | Sodium-dependent neutral amino acid transporter SLC6A17 | Mus musculus (Mouse) | PR |
| O55192 | Slc6a2 | Sodium-dependent noradrenaline transporter | Mus musculus (Mouse) | PR |
| Q64093 | Slc6a20 | Sodium- and chloride-dependent transporter XTRP3 | Rattus norvegicus (Rat) | PR |
| Q62687 | Slc6a18 | Sodium-dependent neutral amino acid transporter B(0)AT3 | Rattus norvegicus (Rat) | PR |
| P31662 | Slc6a17 | Sodium-dependent neutral amino acid transporter SLC6A17 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLLARMNPQV | QPENNGADTG | PEQPLRARKT | AELLVVKERN | GVQCLLAPRD | GDAQPRETWG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KKIDFLLSVV | GFAVDLANVW | RFPYLCYKNG | GGAFLIPYTL | FLIIAGMPLF | YMELALGQYN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| REGAATVWKI | CPFFKGVGYA | VILIALYVGF | YYNVIIAWSL | YYLFSSFTLN | LPWTDCGHTW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NSPNCTDPKL | LNGSVLGNHT | KYSKYKFTPA | AEFYERGVLH | LHESSGIHDI | GLPQWQLLLC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LMVVVIVLYF | SLWKGVKTSG | KVVWITATLP | YFVLFVLLVH | GVTLPGASNG | INAYLHIDFY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RLKEATVWID | AATQIFFSLG | AGFGVLIAFA | SYNKFDNNCY | RDALLTSSIN | CITSFVSGFA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IFSILGYMAH | EHKVNIEDVA | TEGAGLVFIL | YPEAISTLSG | STFWAVVFFV | MLLALGLDSS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MGGMEAVITG | LADDFQVLKR | HRKLFTFGVT | FSTFLLALFC | ITKGGIYVLT | LLDTFAAGTS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ILFAVLMEAI | GVSWFYGVDR | FSNDIQQMMG | FRPGLYWRLC | WKFVSPAFLL | FVVVVSIINF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KPLTYDDYIF | PPWANWVGWG | IALSSMVLVP | IYVIYKFLST | QGSLWERLAY | GITPENEHHL |
| 610 | |||||
| VAQRDIRQFQ | LQHWLAI |