Q9NU53
Gene name |
GINM1 (C6orf72, UNQ710/PRO1361) |
Protein name |
Glycoprotein integral membrane protein 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:116254 |
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 Q9NU53
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NU53-F1 | Predicted | AlphaFoldDB |
237 variants for Q9NU53
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs745626953 CA4042587 |
3 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4042586 rs780954745 |
3 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366009515 rs1285112911 |
4 | A>T | No |
ClinGen gnomAD |
|
|
rs769668787 CA4042588 |
6 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562448511 CA4042590 |
7 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366009540 rs1210648307 |
8 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774501814 CA4042592 |
10 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774501814 CA366009548 |
10 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762047324 CA4042593 |
11 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366009587 rs977719157 |
17 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs977719157 CA149955454 |
17 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4042597 rs766718765 |
18 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA149955478 rs754216692 |
20 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4042598 rs754216692 |
20 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366009621 rs1293113391 |
23 | G>D | No |
ClinGen gnomAD |
|
|
CA149955483 rs955280445 |
23 | G>S | No |
ClinGen TOPMed |
|
|
rs755411796 CA366009628 |
24 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366009625 rs1351289320 |
24 | W>* | No |
ClinGen gnomAD |
|
|
rs755411796 CA4042599 |
24 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA149955501 rs911057726 |
26 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs997881466 CA149955504 |
26 | T>M | No |
ClinGen Ensembl |
|
|
rs1562268775 CA366009647 |
28 | G>S | No |
ClinGen Ensembl |
|
|
CA4042603 rs780676050 |
30 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4042604 rs532883672 |
30 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366009658 rs780676050 |
30 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4042606 rs779837750 |
32 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366009685 rs1183901292 |
34 | P>L | No |
ClinGen gnomAD |
|
|
CA149955553 rs969328527 |
36 | S>F | No |
ClinGen Ensembl |
|
|
CA149955560 rs978848016 |
37 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA366009696 rs1172698002 |
37 | G>R | No |
ClinGen gnomAD |
|
|
rs774483236 CA4042609 |
38 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1031743815 CA149955569 |
38 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1428957383 CA366009709 |
39 | P>R | No |
ClinGen TOPMed |
|
|
rs1368630088 CA366009713 |
40 | Q>* | No |
ClinGen TOPMed |
|
|
CA4042610 rs761957253 |
40 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365999486 rs1302570398 |
41 | D>G | No |
ClinGen gnomAD |
|
|
CA4042627 rs754864124 |
42 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4042625 rs142853295 |
42 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1074430 rs142853295 CA4042626 |
42 | G>S | Variant assessed as Somatic; 4.667e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA365999545 rs1273920970 |
45 | I>M | No |
ClinGen gnomAD |
|
|
CA4042628 rs199901540 |
48 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4042629 rs748052857 |
49 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs771917817 CA4042630 |
53 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA365999651 rs1485179756 |
55 | D>Y | No |
ClinGen TOPMed |
|
|
rs747124651 CA149908132 |
56 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4042632 rs747124651 |
56 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771172096 COSM421040 CA4042633 |
57 | S>P | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
rs1278918911 CA365999681 |
58 | K>E | No |
ClinGen TOPMed |
|
|
rs776886244 CA4042634 |
60 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1562270336 CA365999719 |
60 | Q>H | No |
ClinGen Ensembl |
|
|
CA4042648 rs758354098 |
62 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4042649 rs777630061 |
63 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417958067 CA365999872 |
64 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA365999927 rs1287037295 |
67 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 68 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1314663881 CA365999982 |
70 | G>E | No |
ClinGen gnomAD |
|
|
rs1396365007 CA365999978 |
70 | G>R | No |
ClinGen gnomAD |
|
|
CA4042654 rs373801091 |
75 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770015787 CA4042655 |
76 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4042657 rs763289534 |
78 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA366000106 rs1202492778 |
78 | P>L | No |
ClinGen gnomAD |
|
|
CA366000156 rs1485430253 |
82 | G>V | No |
ClinGen gnomAD |
|
|
CA4042658 rs541056398 |
83 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774766879 CA4042659 |
84 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762417430 CA4042660 |
85 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4042661 rs761125598 |
85 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs753416345 CA4042662 |
86 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366000206 rs1469745270 |
87 | S>N | No |
ClinGen TOPMed |
|
|
rs765049479 CA4042664 |
88 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1414398575 CA366000243 |
91 | L>S | No |
ClinGen gnomAD |
|
|
rs1554219254 COSM1545115 CA4042665 |
93 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA366001091 rs1277245329 |
94 | K>* | No |
ClinGen gnomAD |
|
|
rs1582735473 CA366001104 |
95 | N>I | No |
ClinGen Ensembl |
|
| TCGA novel | 97 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366001119 rs1192687017 |
97 | N>S | No |
ClinGen TOPMed |
|
|
rs1266046835 CA366001162 |
103 | E>* | No |
ClinGen gnomAD |
|
|
rs759175308 CA4042692 |
103 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 104 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764963346 CA4042693 |
105 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4042695 rs145071660 |
109 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366001246 rs1429074272 |
115 | L>* | No |
ClinGen gnomAD |
|
|
rs1172358563 CA366001250 |
115 | L>F | No |
ClinGen gnomAD |
|
|
rs763745277 CA4042696 |
116 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA366001259 rs1421397494 |
117 | H>R | No |
ClinGen gnomAD |
|
|
rs200356862 CA4042698 |
119 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200356862 CA4042699 |
119 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4042697 rs148558124 |
119 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs557030904 CA149912578 |
120 | P>L | No |
ClinGen Ensembl |
|
|
CA149912605 rs938916757 |
121 | M>T | No |
ClinGen TOPMed |
|
|
rs750484367 CA4042700 |
121 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756233383 CA4042702 |
124 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs756233383 CA4042701 |
124 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs867547443 CA149912635 |
125 | S>F | No |
ClinGen Ensembl |
|
|
rs1394332421 CA366001359 |
126 | S>G | No |
ClinGen gnomAD |
|
|
rs779084458 CA4042705 |
133 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4042706 rs748594378 |
135 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA366001570 rs748594378 |
135 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA4042708 rs772693938 |
137 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4042707 rs772693938 |
137 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 138 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745341969 CA4042709 |
141 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA366001739 rs1467925237 |
143 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA149912707 rs947800767 |
143 | Q>K | No |
ClinGen TOPMed |
|
|
rs993902305 CA149913289 |
144 | V>A | No |
ClinGen Ensembl |
|
|
CA4042729 rs372765071 |
145 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1214743537 CA366002634 |
148 | D>E | No |
ClinGen gnomAD |
|
|
rs747468426 CA4042730 |
149 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185368495 CA366002659 |
152 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 152 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148645680 CA4042732 |
153 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1582735900 CA366002681 |
155 | L>F | No |
ClinGen Ensembl |
|
|
rs78098524 CA4042733 |
156 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4042734 rs78098524 |
156 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202099709 CA4042735 |
159 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA149913311 rs896003323 |
159 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1582735914 CA366002709 |
160 | G>A | No |
ClinGen Ensembl |
|
|
CA4042736 rs761563128 |
160 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs965002666 CA149913323 |
161 | V>A | No |
ClinGen Ensembl |
|
|
rs1282877905 CA366002728 |
163 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1413384215 CA366002742 |
165 | S>L | No |
ClinGen gnomAD |
|
|
rs1351377618 CA366002745 |
166 | N>Y | No |
ClinGen gnomAD |
|
|
rs1444433787 CA366002755 |
167 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA366002764 rs1400964686 |
168 | T>I | No |
ClinGen TOPMed |
|
|
CA149913345 rs1023533034 |
169 | L>P | No |
ClinGen TOPMed |
|
|
rs775212681 CA4042740 |
170 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs375497080 CA4042739 |
170 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223147089 CA366002799 |
174 | S>G | No |
ClinGen gnomAD |
|
|
rs1562272226 CA366002807 |
175 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 176 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 176 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA149913379 rs753886714 |
178 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4042742 rs564649407 |
179 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4042743 rs373895852 |
181 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA366002846 rs1183286450 |
181 | R>Q | No |
ClinGen gnomAD |
|
|
rs752928540 CA4042744 |
182 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1187206442 CA366002858 |
183 | S>G | No |
ClinGen TOPMed |
|
|
rs758714565 CA4042745 |
183 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA149913397 rs1000417578 |
184 | D>V | No |
ClinGen TOPMed |
|
|
CA4042746 rs568589964 |
185 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747382393 CA4042748 |
188 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4042747 rs747382393 |
188 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA149913422 rs957437135 |
189 | L>P | No |
ClinGen Ensembl |
|
|
CA366002960 rs1187747354 |
192 | L>I | No |
ClinGen gnomAD |
|
|
CA149913481 rs988930993 |
194 | K>N | No |
ClinGen gnomAD |
|
|
rs1411894477 CA366003009 |
194 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 196 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4042769 rs781517162 |
199 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366003197 rs1326818506 |
200 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 200 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4042770 rs750899252 |
204 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113405611 CA149913788 |
206 | Q>* | No |
ClinGen Ensembl |
|
|
rs568421688 CA4042771 |
206 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4042773 rs747726414 |
207 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4042774 rs771702613 |
209 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777455778 CA4042775 |
210 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1562272396 CA366003354 |
213 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 215 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366003413 rs1582736317 |
218 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 221 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4042777 rs151291405 |
223 | G>R | No |
ClinGen ESP ExAC |
|
|
CA366003469 rs1351916019 |
224 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs759458853 CA4042779 |
231 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1463109159 CA366003533 |
232 | A>E | No |
ClinGen TOPMed |
|
|
CA4042781 rs775706393 |
233 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4042782 rs763183200 |
234 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325133603 CA366003590 |
236 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs751844499 CA4042784 |
237 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383681828 CA366003620 |
239 | K>E | No |
ClinGen gnomAD |
|
|
CA366004047 rs1479693745 |
243 | Q>H | No |
ClinGen gnomAD |
|
|
CA149915180 rs1054260366 |
244 | W>C | No |
ClinGen TOPMed |
|
|
rs140562734 CA4042812 |
244 | W>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756928537 CA4042813 |
245 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs780764319 CA4042814 |
246 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4042815 rs1137086 |
247 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366004210 rs1284383626 |
250 | K>E | No |
ClinGen TOPMed |
|
|
rs1446868688 CA366004264 |
251 | D>E | No |
ClinGen TOPMed |
|
|
CA366004244 rs756008447 |
251 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA4042816 rs756008447 |
251 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1460005370 CA366004322 |
255 | F>S | No |
ClinGen gnomAD |
|
|
CA366004341 rs1582737038 |
256 | W>* | No |
ClinGen Ensembl |
|
|
rs1330120127 CA366004352 |
256 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4042817 rs780022994 |
257 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA149915215 rs763195989 |
258 | N>S | No |
ClinGen Ensembl |
|
|
CA4042819 rs369466491 |
259 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA366004445 rs1406808090 |
260 | F>L | No |
ClinGen TOPMed |
|
|
CA366004449 rs1406808090 |
260 | F>V | No |
ClinGen TOPMed |
|
|
CA4042820 rs774486657 |
260 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4042821 rs748236590 |
262 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA149915285 rs998033226 |
264 | F>L | No |
ClinGen TOPMed |
|
|
rs61740595 CA149915324 |
268 | N>T | No |
ClinGen Ensembl |
|
|
CA4042825 rs760917588 |
270 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4042824 rs773349705 |
270 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs577606517 CA149915380 |
271 | V>M | No |
ClinGen 1000Genomes |
|
| TCGA novel | 273 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366004822 rs1250176339 |
275 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 276 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766681110 CA366004830 CA4042826 |
276 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1488032695 CA366004858 |
277 | A>E | No |
ClinGen gnomAD |
|
|
CA149915403 rs776994605 |
280 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776994605 CA4042827 |
280 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366004922 rs1582737112 |
281 | I>V | No |
ClinGen Ensembl |
|
|
CA4042828 rs533765799 |
282 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1289590485 CA366004960 |
283 | I>N | No |
ClinGen TOPMed |
|
|
CA366004955 rs1322646109 |
283 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 284 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366004993 rs1244289650 |
285 | K>E | No |
ClinGen TOPMed |
|
|
CA366005017 rs1356821011 |
286 | V>G | No |
ClinGen TOPMed |
|
|
CA149915431 rs751065479 |
286 | V>L | No |
ClinGen ExAC |
|
|
rs751065479 CA4042830 |
286 | V>M | No |
ClinGen ExAC |
|
|
rs1324462711 CA366005090 |
291 | S>T | No |
ClinGen gnomAD |
|
|
CA366005122 rs1349846296 |
292 | E>D | No |
ClinGen gnomAD |
|
|
CA149915495 rs984943233 |
293 | Y>H | No |
ClinGen TOPMed |
|
|
CA366006740 rs1313710024 |
298 | Q>* | No |
ClinGen gnomAD |
|
|
rs775901745 CA366006753 |
299 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4042851 rs763543253 |
302 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4042854 rs141208211 |
304 | V>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4042853 rs376204256 |
304 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4042855 rs766194984 |
305 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs73781243 CA4042857 |
306 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753666762 CA4042856 |
306 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1280566672 CA366006838 |
307 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 308 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185110865 CA366006860 |
309 | A>G | No |
ClinGen gnomAD |
|
|
CA149921949 rs924370563 |
309 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778803132 CA149921950 |
310 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4042858 rs778803132 |
310 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752532394 CA4042860 |
311 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA366006880 rs1460769841 |
311 | N>S | No |
ClinGen TOPMed |
|
|
rs1379795000 CA366006895 |
313 | Y>C | No |
ClinGen TOPMed |
|
|
CA366006891 rs1273492020 |
313 | Y>H | No |
ClinGen gnomAD |
|
|
CA366006918 rs1419449209 |
317 | P>S | No |
ClinGen gnomAD |
|
|
rs777766635 CA4042863 |
322 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA366006978 rs1433095113 |
325 | E>G | No |
ClinGen gnomAD |
|
|
CA366007003 rs1433413325 |
328 | T>I | No |
ClinGen TOPMed |
|
|
CA4042866 rs781439058 |
330 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1562274537 CA366007015 |
330 | I>T | No |
ClinGen Ensembl |
No associated diseases with Q9NU53
4 regional properties for Q9NU53
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Aminoacyl-tRNA synthetase, class II (G/ P/ S/T) | 240 - 415 | IPR002314 |
| domain | Aminoacyl-tRNA synthetase, class II | 177 - 425 | IPR006195 |
| domain | Serine-tRNA synthetase, type1, N-terminal | 1 - 110 | IPR015866 |
| domain | Serine-tRNA ligase catalytic core domain | 123 - 432 | IPR033729 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEGAPPGSLA | LRLLLFVALP | ASGWLTTGAP | EPPPLSGAPQ | DGIRINVTTL | KDDGDISKQQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VVLNITYESG | QVYVNDLPVN | SGVTRISCQT | LIVKNENLEN | LEEKEYFGIV | SVRILVHEWP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MTSGSSLQLI | VIQEEVVEID | GKQVQQKDVT | EIDILVKNRG | VLRHSNYTLP | LEESMLYSIS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RDSDILFTLP | NLSKKESVSS | LQTTSQYLIR | NVETTVDEDV | LPGKLPETPL | RAEPPSSYKV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MCQWMEKFRK | DLCRFWSNVF | PVFFQFLNIM | VVGITGAAVV | ITILKVFFPV | SEYKGILQLD |
| 310 | 320 | ||||
| KVDVIPVTAI | NLYPDGPEKR | AENLEDKTCI |