Q15434
Gene name |
RBMS2 (SCR3) |
Protein name |
RNA-binding motif, single-stranded-interacting protein 2 |
Names |
Suppressor of CDC2 with RNA-binding motif 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5939 |
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
2 structures for Q15434
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1X4E | NMR | - | A | 58-129 | PDB |
| AF-Q15434-F1 | Predicted | AlphaFoldDB |
315 variants for Q15434
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA385286425 rs1331064940 |
2 | L>P | No |
ClinGen gnomAD |
|
|
rs1004433171 CA237658074 |
5 | V>M | No |
ClinGen TOPMed |
|
|
CA6633421 rs771779362 |
6 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 8 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354186973 CA385286633 |
9 | P>R | No |
ClinGen TOPMed |
|
|
CA385286625 rs1216100826 |
9 | P>S | No |
ClinGen TOPMed |
|
|
CA385286668 rs1232054517 |
10 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 13 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770512270 CA6633424 |
16 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA237658082 rs1011482042 |
17 | N>D | No |
ClinGen TOPMed |
|
|
CA385286925 rs1456148151 |
17 | N>S | No |
ClinGen gnomAD |
|
|
rs1287958482 CA385286982 |
19 | N>D | No |
ClinGen TOPMed |
|
| rs781172723 | 20 | N>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6633427 rs763520213 |
20 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs764597829 CA6633428 |
20 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1290906580 CA385287085 |
22 | K>T | No |
ClinGen gnomAD |
|
|
CA385299908 rs1291965453 |
24 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs369110719 CA6633449 |
25 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385299956 rs3759091 |
27 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3759091 CA385299957 |
27 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6633451 rs772310200 |
30 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA385300018 rs1180877630 |
31 | M>I | No |
ClinGen gnomAD |
|
|
rs773548497 CA6633452 |
31 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA385300028 rs1378900514 |
32 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1378900514 CA385300024 |
32 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6633454 rs766494943 |
33 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6633453 rs760856152 |
33 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416612418 CA385300092 |
36 | P>T | No |
ClinGen gnomAD |
|
|
rs1403088682 CA385300162 |
38 | N>K | No |
ClinGen gnomAD |
|
|
rs753939467 CA6633455 |
39 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA385300208 rs1448580487 |
41 | P>S | No |
ClinGen gnomAD |
|
|
rs1304860504 CA385300267 |
43 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs200678301 CA237672116 |
44 | S>G | No |
ClinGen 1000Genomes |
|
|
CA385300354 rs1328909570 |
46 | G>R | No |
ClinGen gnomAD |
|
|
CA385300383 rs1432266521 |
47 | S>N | No |
ClinGen TOPMed |
|
|
rs1245261936 CA385300424 |
48 | N>K | No |
ClinGen gnomAD |
|
|
CA6633456 rs759574318 |
48 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385300439 rs1285813413 |
49 | G>A | No |
ClinGen gnomAD |
|
|
CA385300561 rs1404126233 |
52 | Q>R | No |
ClinGen gnomAD |
|
|
rs1231515253 CA385300611 |
54 | S>N | No |
ClinGen gnomAD |
|
|
rs563161140 CA6633457 |
54 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6633458 rs752522063 |
55 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1034294284 CA237672126 |
56 | T>I | No |
ClinGen gnomAD |
|
|
CA385300649 rs1592429537 |
56 | T>P | No |
ClinGen Ensembl |
|
|
CA6633459 rs758276334 |
57 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1236609177 CA385300727 |
59 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs751301625 CA6633461 |
60 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs138231675 CA6633462 |
61 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6633463 rs780949661 |
61 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs769127441 CA6633465 |
64 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA385300892 rs1423672327 |
66 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1423672327 CA385300888 |
66 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6633466 rs779530500 |
67 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385300927 rs1301987999 |
68 | T>I | No |
ClinGen TOPMed |
|
|
rs1020536701 CA237672143 |
69 | D>V | No |
ClinGen gnomAD |
|
|
CA385301045 rs1338606041 |
73 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA237672146 rs966354874 |
73 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs966354874 CA385301032 |
73 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs979121670 CA385301089 |
74 | K>N | No |
ClinGen gnomAD |
|
|
CA385301110 rs1318642757 |
76 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1400347791 CA385301128 |
77 | Q>* | No |
ClinGen TOPMed |
|
|
CA6633470 rs201891574 |
78 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1565764844 CA385302589 |
80 | G>S | No |
ClinGen Ensembl |
|
|
CA385302645 rs1260484308 |
82 | I>T | No |
ClinGen gnomAD |
|
|
rs775450277 CA385302653 |
83 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775450277 CA6633496 |
83 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6633497 rs777863145 |
88 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6633498 rs764129358 |
90 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs368873647 CA6633500 |
91 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767415046 CA6633501 |
92 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1288245355 CA385302836 |
93 | T>I | No |
ClinGen gnomAD |
|
|
CA6633502 rs750139812 |
94 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6633503 rs755700399 |
96 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA385302883 rs755700399 |
96 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1254282139 CA385302924 |
98 | G>C | No |
ClinGen TOPMed |
|
|
CA6633520 rs772904949 |
99 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
COSM941711 CA237673887 rs959792491 |
100 | G>D | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6633521 rs760480312 |
101 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6633522 rs765954581 |
102 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246341719 CA385303176 |
102 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA385303200 rs1387166604 |
103 | D>V | No |
ClinGen gnomAD |
|
|
CA385303237 rs1565766000 |
105 | D>H | No |
ClinGen Ensembl |
|
|
rs1565766000 CA385303238 |
105 | D>Y | No |
ClinGen Ensembl |
|
|
rs1565766040 COSM163962 CA385303342 |
108 | S>L | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6633525 rs764725341 |
111 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6633526 rs752104323 |
112 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA385303474 rs1256757977 |
113 | A>S | No |
ClinGen gnomAD |
|
|
rs757743610 CA6633527 |
114 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA385303506 rs1320985711 |
115 | T>A | No |
ClinGen gnomAD |
|
|
CA6633528 rs149875820 |
116 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA237673901 rs201031970 |
118 | K>R | No |
ClinGen 1000Genomes |
|
|
rs1415717700 CA385303642 |
119 | A>T | No |
ClinGen gnomAD |
|
|
CA385303689 rs1171582771 |
121 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780196032 CA6633531 |
125 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1240387400 CA385303888 |
125 | Q>L | No |
ClinGen TOPMed |
|
|
rs1212156282 CA385303956 |
126 | M>T | No |
ClinGen TOPMed |
|
|
CA237673908 rs113684472 |
126 | M>V | No |
ClinGen Ensembl |
|
|
rs749520337 CA6633532 |
127 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA6633533 rs768895279 |
128 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA385305242 rs1274469775 |
129 | Q>K | No |
ClinGen TOPMed |
|
|
CA237674385 rs1023661888 |
131 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs969437887 CA237674387 |
137 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 141 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592461699 CA385305626 |
141 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 143 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772223079 CA6633555 |
144 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA237674392 rs149053812 COSM941713 |
146 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA6633556 rs777631967 |
146 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1160401104 CA385305783 |
149 | Q>* | No |
ClinGen TOPMed |
|
|
CA6633557 rs746964419 |
152 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs993121089 CA237674395 |
152 | E>K | No |
ClinGen Ensembl |
|
|
CA6633559 rs370696784 |
153 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759282201 CA6633560 |
154 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs775062304 CA6633562 |
160 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6633563 rs762504244 |
162 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs763653693 CA6633564 |
163 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 164 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144330252 CA6633567 |
165 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754285706 CA6633568 |
165 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237674414 rs375595230 |
166 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs755327244 CA6633569 |
168 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385306293 rs1445284168 |
168 | R>Q | No |
ClinGen gnomAD |
|
|
CA385306421 rs1219504869 |
176 | G>D | No |
ClinGen TOPMed |
|
|
CA6633571 rs752956765 |
176 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs754909777 CA6633572 |
177 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192108656 CA385306430 |
177 | V>I | No |
ClinGen gnomAD |
|
|
rs778779594 CA237674429 |
178 | G>S | No |
ClinGen Ensembl |
|
|
rs1160738799 CA385306511 |
180 | A>V | No |
ClinGen gnomAD |
|
|
CA385331546 rs1212124104 |
182 | M>T | No |
ClinGen gnomAD |
|
|
rs201186596 CA6633605 |
183 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748980172 CA6633606 |
185 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1455873995 CA385331582 |
187 | K>M | No |
ClinGen TOPMed |
|
|
rs1057388884 CA237665584 |
187 | K>N | No |
ClinGen Ensembl |
|
|
rs747715678 CA6633609 |
196 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs771459857 CA6633610 |
198 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 198 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777316431 CA6633611 |
202 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA385331746 rs765752056 |
204 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA385331752 rs1445818077 |
204 | P>R | No |
ClinGen TOPMed |
|
|
rs765752056 CA385331748 |
204 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs765752056 CA6633613 |
204 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs371720843 CA6633614 |
205 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs945144527 CA237665623 |
205 | G>R | No |
ClinGen TOPMed |
|
|
CA385331783 rs1434076333 |
207 | P>S | No |
ClinGen gnomAD |
|
|
rs1384501933 CA385331849 |
209 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746458217 CA6633630 |
210 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237665679 rs746458217 |
210 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776096624 CA6633632 |
211 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA237665699 rs1015725989 |
213 | L>F | No |
ClinGen TOPMed |
|
|
rs575794871 CA385331960 |
216 | K>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6633634 rs575794871 |
216 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs575794871 CA237665703 |
216 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385332000 rs1236212471 |
219 | D>V | No |
ClinGen gnomAD |
|
|
CA385332005 rs1259680651 |
220 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 221 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761930252 CA6633636 COSM549168 |
221 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs750508627 CA6633638 |
224 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6633639 rs750508627 |
224 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs146998541 CA6633640 |
225 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146998541 CA6633641 |
225 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754841950 CA6633642 |
225 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1252546133 CA385332042 |
226 | Q>* | No |
ClinGen gnomAD |
|
|
rs1283710555 CA385332047 |
226 | Q>R | No |
ClinGen TOPMed |
|
|
rs1223178186 CA385332058 |
227 | N>D | No |
ClinGen TOPMed |
|
|
CA385332093 rs1181031412 |
229 | G>R | No |
ClinGen gnomAD |
|
|
rs752450975 CA385332131 |
231 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs752450975 CA6633644 |
231 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs371906296 CA6633645 |
233 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371906296 CA385332153 |
233 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1344540964 CA385332185 |
234 | N>K | No |
ClinGen TOPMed |
|
|
rs746546309 CA6633648 |
236 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6633649 rs746546309 |
236 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs376730098 CA237665752 |
236 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA237665757 rs983829248 |
237 | A>T | No |
ClinGen Ensembl |
|
|
rs1390117559 CA385332217 |
237 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1316797163 CA385332295 |
242 | A>E | No |
ClinGen TOPMed |
|
|
CA385332289 rs1358111690 |
242 | A>T | No |
ClinGen TOPMed |
|
|
rs780654306 CA6633650 |
244 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs148057149 | 245 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6633671 rs779436719 |
245 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA385332377 rs1592498288 |
245 | G>S | No |
ClinGen Ensembl |
|
|
CA6633673 rs140900217 |
246 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 248 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs909802034 CA237665929 |
248 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs747227545 CA6633675 |
251 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6633677 rs374424918 |
253 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1204812384 CA385332580 |
255 | T>I | No |
ClinGen TOPMed |
|
|
rs750923101 CA237665950 |
256 | A>G | No |
ClinGen Ensembl |
|
|
CA385332585 rs1427091434 |
256 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs749702342 CA385332610 |
257 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749702342 CA6633680 |
257 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749702342 CA385332607 |
257 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385332670 rs1437075052 |
260 | G>R | No |
ClinGen gnomAD |
|
|
rs1343050040 CA385332809 |
261 | F>C | No |
ClinGen gnomAD |
|
|
rs768659830 CA6633699 |
262 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA6633698 rs150186901 |
262 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6633700 rs774295449 |
263 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs186378788 CA237666024 |
264 | A>D | No |
ClinGen 1000Genomes |
|
| TCGA novel | 266 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767099663 CA6633703 |
269 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385333001 rs767099663 |
269 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6633705 rs760144097 |
270 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765907785 CA6633706 |
271 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385333077 rs1470097734 |
272 | R>K | No |
ClinGen gnomAD |
|
|
CA6633707 rs376412635 |
273 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385333210 rs1179485357 |
279 | L>F | No |
ClinGen gnomAD |
|
|
CA237666040 rs1029843608 |
280 | S>F | No |
ClinGen Ensembl |
|
|
CA237666044 rs886915854 |
281 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6633711 rs757589853 |
283 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6633715 rs780297509 |
285 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs558330150 CA6633714 |
285 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749316781 CA385333319 |
286 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749316781 CA6633716 COSM1705821 |
286 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6633717 rs768746099 |
288 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385333391 rs1444248926 |
289 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs371212744 CA6633719 |
290 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385335495 rs1216744688 |
292 | R>T | No |
ClinGen gnomAD |
|
|
rs749403082 CA6633734 |
293 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6633735 rs755088135 |
294 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs779034318 CA6633736 |
298 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 298 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748112921 CA6633738 |
302 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6633739 rs771819658 |
304 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs867745346 CA237668204 |
305 | S>F | No |
ClinGen Ensembl |
|
|
CA6633740 rs773073425 |
306 | W>R | No |
ClinGen ExAC |
|
|
CA237668207 rs953613172 |
308 | H>L | No |
ClinGen TOPMed |
|
|
CA6633741 rs746713569 |
308 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA385335654 rs1592513831 |
309 | H>P | No |
ClinGen Ensembl |
|
|
CA385335664 rs1476268518 |
309 | H>Q | No |
ClinGen gnomAD |
|
|
CA6633743 rs770600714 |
310 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6633742 rs770600714 |
310 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs759093964 CA6633745 |
312 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA385335775 rs1001477956 |
316 | P>A | No |
ClinGen TOPMed |
|
|
CA237668256 rs1001477956 |
316 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA385335798 rs1325231314 |
317 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1159728872 CA385335850 |
318 | G>C | No |
ClinGen gnomAD |
|
|
CA385335872 rs1364851702 |
322 | T>S | No |
ClinGen gnomAD |
|
|
CA385335886 rs1315066069 |
324 | G>E | No |
ClinGen TOPMed |
|
|
CA385335902 rs1442179980 |
326 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 326 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329900644 CA385335910 |
327 | H>R | No |
ClinGen gnomAD |
|
|
rs768094845 CA6633767 |
329 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6633768 rs773572162 |
331 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748814186 CA237668541 |
333 | P>H | No |
ClinGen Ensembl |
|
|
CA385335996 rs1195340347 |
336 | M>I | No |
ClinGen gnomAD |
|
|
rs754171343 CA6633771 |
336 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754171343 CA385335982 |
336 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237668556 rs758292824 |
337 | M>I | No |
ClinGen Ensembl |
|
|
rs755263749 CA6633772 |
338 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA385336040 rs1304280681 |
339 | P>L | No |
ClinGen gnomAD |
|
|
CA237668564 rs1054058727 |
339 | P>S | No |
ClinGen TOPMed |
|
|
rs1432569629 CA385336044 |
340 | L>F | No |
ClinGen gnomAD |
|
|
rs778605724 CA6633775 |
342 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6633776 rs146335313 |
346 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA237668569 rs988642224 |
347 | L>V | No |
ClinGen Ensembl |
|
|
CA385336119 rs1462265768 |
348 | S>F | No |
ClinGen gnomAD |
|
|
rs913141941 CA237668573 |
352 | T>I | No |
ClinGen TOPMed |
|
| rs374841391 | 354 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200554259 CA237668577 |
354 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA385336230 rs1310158451 |
355 | Y>C | No |
ClinGen gnomAD |
|
|
CA6633797 rs750245524 |
356 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs147777758 CA6633798 |
357 | P>L | Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA385336245 COSM941716 rs1432054112 |
357 | P>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6633801 rs375943823 |
358 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6633800 rs375943823 |
358 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747593096 CA6633803 |
362 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs747593096 CA385336277 |
362 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs747593096 CA6633804 |
362 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs777228521 CA6633805 |
365 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA385336328 rs1183756984 |
366 | Y>C | No |
ClinGen gnomAD |
|
|
CA385336324 rs1440857303 |
366 | Y>H | No |
ClinGen TOPMed |
|
|
CA6633807 rs148793349 |
367 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs775844205 CA6633808 |
369 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs954749575 CA237669023 |
371 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6633810 rs764316068 |
371 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA237669029 rs954749575 |
371 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA237669037 rs368884447 |
373 | V>L | No |
ClinGen ESP TOPMed |
|
|
rs989211939 CA237669042 |
375 | S>P | No |
ClinGen TOPMed |
|
|
CA237669046 rs913624656 |
377 | S>G | No |
ClinGen TOPMed |
|
|
CA385336429 rs1415668922 |
377 | S>N | No |
ClinGen TOPMed |
|
|
rs1565786107 CA385336434 |
378 | V>I | No |
ClinGen Ensembl |
|
|
rs750333517 CA6633814 |
380 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs753613023 CA6633817 |
381 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs201299402 CA6633816 |
381 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6633839 rs752366248 |
382 | E>G | No |
ClinGen ExAC |
|
|
rs1565786738 CA385336964 |
383 | S>G | No |
ClinGen Ensembl |
|
|
rs377246241 CA6633840 |
383 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6633841 rs777404766 |
384 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6633843 rs756580562 |
385 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs921060158 CA237669387 |
387 | Q>E | No |
ClinGen Ensembl |
|
|
CA6633844 rs780564406 |
392 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1190012442 CA385337025 |
392 | V>M | No |
ClinGen gnomAD |
|
|
rs749666279 CA6633845 |
393 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050943172 CA237669407 COSM694448 |
394 | A>T | lung large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs761746341 CA237669411 |
395 | P>L | No |
ClinGen gnomAD |
|
|
rs761746341 CA385337046 |
395 | P>R | No |
ClinGen gnomAD |
|
|
rs1434155038 CA385337056 |
397 | E>G | No |
ClinGen gnomAD |
|
|
CA6633848 rs150502597 |
397 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs532061418 CA6633850 |
398 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs532061418 CA237669422 |
398 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760767462 CA6633851 |
399 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs766247638 CA6633852 |
400 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs766247638 CA385337084 |
400 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA237669449 rs767797932 |
401 | Y>C | No |
ClinGen gnomAD |
|
|
rs1387631392 CA385337089 |
401 | Y>H | No |
ClinGen gnomAD |
|
|
rs776608607 CA6633854 |
402 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs776608607 CA6633853 |
402 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA237669463 rs939894250 |
403 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA237669464 rs140314358 |
403 | F>S | No |
ClinGen ESP |
|
|
rs1307798409 CA385337160 |
405 | F>L | No |
ClinGen TOPMed |
|
|
rs1393003742 CA385337174 |
405 | F>L | No |
ClinGen TOPMed |
|
|
CA385337167 rs1246700391 |
405 | F>S | No |
ClinGen gnomAD |
|
|
CA385337187 rs1388518491 |
406 | N>S | No |
ClinGen TOPMed |
|
|
CA6633857 rs762705065 |
407 | K>N | No |
ClinGen ExAC gnomAD |
No associated diseases with Q15434
2 regional properties for Q15434
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA recognition motif domain | 56 - 129 | IPR000504-1 |
| domain | RNA recognition motif domain | 135 - 220 | IPR000504-2 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA 3'-UTR binding | Binding to a 3' untranslated region of an mRNA molecule. |
| poly(A) binding | Binding to a sequence of adenylyl residues in an RNA molecule, such as the poly(A) tail, a sequence of adenylyl residues at the 3' end of eukaryotic mRNA. |
| poly(U) RNA binding | Binding to a sequence of uracil residues in an RNA molecule. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| RNA processing | Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLLSVTSRPG | ISTFGYNRNN | KKPYVSLAQQ | MAPPSPSNST | PNSSSGSNGN | DQLSKTNLYI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RGLQPGTTDQ | DLVKLCQPYG | KIVSTKAILD | KTTNKCKGYG | FVDFDSPSAA | QKAVTALKAS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GVQAQMAKQQ | EQDPTNLYIS | NLPLSMDEQE | LEGMLKPFGQ | VISTRILRDT | SGTSRGVGFA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RMESTEKCEA | IITHFNGKYI | KTPPGVPAPS | DPLLCKFADG | GPKKRQNQGK | FVQNGRAWPR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NADMGVMALT | YDPTTALQNG | FYPAPYNITP | NRMLAQSALS | PYLSSPVSSY | QRVTQTSPLQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VPNPSWMHHH | SYLMQPSGSV | LTPGMDHPIS | LQPASMMGPL | TQQLGHLSLS | STGTYMPTAA |
| 370 | 380 | 390 | 400 | ||
| AMQGAYISQY | TPVPSSSVSV | EESSGQQNQV | AVDAPSEHGV | YSFQFNK |