Q92783
PR
Gene name |
STAM (STAM1) |
Protein name |
Signal transducing adapter molecule 1 |
Names |
STAM-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8027 |
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
4 structures for Q92783
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2L0A | NMR | - | A | 207-267 | PDB |
| 3F1I | X-ray | 230 A | C/S | 301-377 | PDB |
| 3LDZ | X-ray | 260 A | A/B/C/D | 4-143 | PDB |
| AF-Q92783-F1 | Predicted | AlphaFoldDB |
432 variants for Q92783
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1554820511 CA376209384 |
3 | L>F | No |
ClinGen gnomAD |
|
|
CA5427450 rs782366785 |
4 | F>V | No |
ClinGen ExAC |
|
|
CA203669740 rs936607387 |
5 | A>V | No |
ClinGen Ensembl |
|
|
CA376209411 rs1554820520 |
7 | N>S | No |
ClinGen gnomAD |
|
|
rs782196229 CA5427452 |
8 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs782196229 CA376209418 |
8 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs782037157 CA5427454 |
9 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376209456 rs1554820529 |
13 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 14 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376210927 rs1554822734 |
16 | A>T | No |
ClinGen gnomAD |
|
|
CA376210960 rs1554822735 |
18 | S>G | No |
ClinGen Ensembl |
|
|
CA376211026 rs1480854472 |
21 | N>Y | No |
ClinGen TOPMed |
|
|
rs1262769825 CA376211042 |
23 | A>G | No |
ClinGen TOPMed |
|
|
CA376211048 rs1554822736 |
24 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376211077 rs1191549376 |
28 | L>I | No |
ClinGen TOPMed |
|
|
CA5427480 rs141695110 |
31 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA376211107 rs1554822739 |
32 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781847810 CA5427481 |
32 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA376211122 rs782060774 |
34 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1242825808 CA376211125 |
35 | K>E | No |
ClinGen TOPMed |
|
|
rs781891079 CA5427484 |
36 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5427483 rs782722569 |
36 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376211137 rs782564535 |
37 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782564535 CA5427485 |
37 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146245558 CA5427486 |
39 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5427487 rs146245558 |
39 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5427488 rs782460919 |
40 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA376211155 rs782614712 |
40 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782614712 CA5427489 |
40 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376211161 rs1554822750 |
41 | T>I | No |
ClinGen gnomAD |
|
|
rs140058206 CA5427490 |
41 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140058206 CA376211157 COSM1187903 |
41 | T>S | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5427512 rs782583780 |
43 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554825863 CA376210229 |
44 | K>E | No |
ClinGen gnomAD |
|
|
rs1554825865 CA376210235 |
44 | K>R | No |
ClinGen gnomAD |
|
|
CA5427513 rs782198773 |
45 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA203664107 rs371469583 |
46 | C>Y | No |
ClinGen Ensembl |
|
|
rs1554825867 CA376210263 |
47 | L>F | No |
ClinGen gnomAD |
|
|
rs782411500 CA5427514 |
48 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200264317 CA203664109 |
48 | R>W | No |
ClinGen 1000Genomes |
|
|
CA5427516 rs562011901 |
50 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA203664161 rs41289335 |
51 | M>V | No |
ClinGen gnomAD |
|
|
rs782393000 CA5427517 |
54 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5427521 rs145776213 |
61 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145776213 CA5427520 |
61 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5427523 rs782807833 |
62 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs377692538 CA5427522 |
62 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376210367 rs1554825873 |
63 | M>T | No |
ClinGen gnomAD |
|
|
rs905325235 CA203664213 |
65 | A>G | No |
ClinGen Ensembl |
|
|
CA376210394 rs1554825875 |
67 | T>A | No |
ClinGen gnomAD |
|
|
rs782112022 CA5427539 |
68 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5427541 rs781950336 |
72 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs782057734 CA5427542 |
73 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs782057734 CA5427543 |
73 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA376210482 rs1554825887 |
79 | I>N | No |
ClinGen Ensembl |
|
| TCGA novel | 81 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782777553 CA5427546 |
84 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs782777553 CA376210518 |
84 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1554825888 CA376210545 COSM916855 |
88 | D>Y | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs975826441 CA203664372 |
89 | F>C | No |
ClinGen Ensembl |
|
| TCGA novel | 91 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376210565 rs1267582517 |
91 | S>G | No |
ClinGen TOPMed |
|
|
rs1554825889 CA376210573 |
92 | E>Q | No |
ClinGen gnomAD |
|
|
CA376210580 rs1589073597 |
93 | V>I | No |
ClinGen Ensembl |
|
|
rs781871371 CA5427547 |
95 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280579334 COSM916856 CA376210601 |
96 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1554825893 CA376210607 |
97 | L>I | No |
ClinGen gnomAD |
|
|
CA203666684 rs979289248 |
101 | H>Y | No |
ClinGen Ensembl |
|
|
rs782725078 CA5427563 |
105 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5427566 rs142836471 |
110 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5427565 rs782048712 COSM3806875 |
110 | A>T | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs142836471 CA203666750 |
110 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1255629229 CA376211257 |
111 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1255629229 CA376211258 |
111 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781890640 CA5427567 |
112 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279924957 CA376211266 |
112 | M>T | No |
ClinGen TOPMed |
|
|
rs781890640 CA376211263 |
112 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA203666760 rs568999505 |
117 | D>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs568999505 CA376211301 |
117 | D>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 118 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5427568 rs782552412 |
119 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1338894262 CA376211330 |
121 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5427569 rs774072938 |
123 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA203666762 rs774072938 |
123 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376211368 rs1301930139 |
126 | S>I | No |
ClinGen TOPMed |
|
|
CA203666785 rs368123848 |
129 | S>L | No |
ClinGen Ensembl |
|
|
rs782475532 CA5427571 |
130 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs987645540 CA203666810 |
131 | M>V | No |
ClinGen gnomAD |
|
|
rs912163570 CA203666814 |
133 | K>T | No |
ClinGen Ensembl |
|
|
rs1554826308 CA376211436 |
136 | K>N | No |
ClinGen gnomAD |
|
|
CA376211445 rs192113928 CA376211444 |
137 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5427573 rs782204969 |
140 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782557443 CA5427574 |
141 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5427577 rs782394449 |
144 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1180387496 CA376211490 |
145 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782314871 CA5427580 |
146 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554826327 CA376211505 |
147 | S>F | No |
ClinGen gnomAD |
|
|
rs781932197 CA5427581 |
147 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs781947301 CA5427603 |
149 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs782346668 CA376211541 |
150 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs782346668 CA5427604 |
150 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782702794 CA5427605 |
150 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs782762817 CA376211577 |
155 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782163179 CA5427607 |
155 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782163179 CA376211575 |
155 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782762817 CA5427608 |
155 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554827003 CA376211597 |
158 | A>G | No |
ClinGen gnomAD |
|
|
rs1554827002 CA376211594 |
158 | A>P | No |
ClinGen gnomAD |
|
|
rs782480058 CA5427610 |
159 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs782480058 CA376211603 |
159 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA376211607 rs1554827005 |
160 | V>A | No |
ClinGen gnomAD |
|
|
CA376211604 rs782752295 |
160 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782752295 CA5427611 |
160 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5427612 rs781794267 |
161 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA376211618 rs1324300905 |
162 | K>R | No |
ClinGen TOPMed |
|
|
CA376211654 rs1297348199 |
165 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs201871726 CA203670357 |
165 | G>R | No |
ClinGen gnomAD |
|
|
rs1589088523 CA376211664 |
166 | T>S | No |
ClinGen Ensembl |
|
|
CA203670367 rs992176301 |
167 | V>M | No |
ClinGen Ensembl |
|
|
CA203670375 rs916153438 |
169 | N>D | No |
ClinGen gnomAD |
|
|
CA376211709 CA5427615 rs782002028 |
169 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 170 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA203670376 rs146689436 |
171 | K>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5427617 rs782506890 |
174 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402869820 CA376211843 |
178 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1402869820 CA376211841 |
178 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1377242079 CA376212709 |
180 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 181 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 183 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1005145867 CA203671513 |
185 | K>E | No |
ClinGen Ensembl |
|
|
rs369702608 CA5427632 |
187 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376212829 rs1351117776 |
188 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1015315208 CA203671522 |
188 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782747726 CA5427633 |
189 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1554827290 CA376212866 |
190 | Q>H | No |
ClinGen gnomAD |
|
|
CA376212861 rs1378211253 |
190 | Q>P | No |
ClinGen TOPMed |
|
|
CA203671538 rs868991670 |
191 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA203671547 rs551633032 |
192 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs551633032 CA5427635 |
192 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs371392755 CA5427636 |
192 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781788116 CA5427637 |
193 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376212889 rs781788116 |
193 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376212941 rs1554827299 |
197 | L>W | No |
ClinGen gnomAD |
|
|
CA376212953 rs1554827302 |
198 | Y>C | No |
ClinGen gnomAD |
|
|
CA5427639 rs782687683 |
198 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs782244307 CA5427640 |
199 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376212962 rs782244307 |
199 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376212987 rs1554827303 |
201 | T>S | No |
ClinGen gnomAD |
|
|
rs1554827304 CA376213010 |
203 | S>G | No |
ClinGen gnomAD |
|
|
rs1247381030 CA376213020 |
203 | S>I | No |
ClinGen TOPMed |
|
|
rs1247381030 CA376213015 |
203 | S>N | No |
ClinGen TOPMed |
|
|
CA376213032 rs1352200457 |
204 | L>H | No |
ClinGen TOPMed |
|
|
CA376213042 rs1554827308 |
205 | L>S | No |
ClinGen gnomAD |
|
|
CA5427645 COSM1134998 rs781943212 |
209 | Q>H | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs782155089 CA5427646 |
210 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA376213123 rs545861882 |
210 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376213154 COSM32665 rs1554827317 VAR_036348 |
212 | G>D | large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
rs371026356 CA5427648 |
213 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371026356 CA5427649 COSM1702105 |
213 | R>Q | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782736735 CA5427650 |
215 | V>F | No |
ClinGen ExAC gnomAD |
|
|
COSM2131989 CA5427651 rs141778604 |
216 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5427652 rs782050925 |
216 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554827329 CA376213206 |
217 | A>S | No |
ClinGen gnomAD |
|
|
rs201231613 CA5427654 |
218 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374018862 CA5427653 COSM3723727 |
218 | I>V | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA376213241 rs1554827335 |
220 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146952486 CA5427655 |
226 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554827337 CA376213355 |
227 | N>S | No |
ClinGen Ensembl |
|
|
rs367879073 CA5427657 |
232 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs116709625 CA376213420 |
232 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5427659 rs370439088 |
234 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA203671703 rs370439088 |
234 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 235 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5427660 rs782205134 |
236 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs562648107 CA5427661 |
238 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1554827347 CA376213464 |
239 | V>A | No |
ClinGen gnomAD |
|
|
CA376213462 rs1554827346 |
239 | V>I | No |
ClinGen gnomAD |
|
|
CA5427663 rs782242148 |
240 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1554827350 CA376213481 |
242 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA376213492 rs1217991487 |
243 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 244 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5427685 rs782413686 |
247 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376213534 rs1554827563 |
247 | W>L | No |
ClinGen gnomAD |
|
|
rs782194989 CA203672723 |
248 | W>* | No |
ClinGen Ensembl |
|
|
rs1554827568 CA376213561 |
251 | E>K | No |
ClinGen gnomAD |
|
|
CA5427686 rs376656791 |
253 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554827571 CA376213590 |
255 | G>S | No |
ClinGen Ensembl |
|
|
rs906731617 CA203672746 |
256 | I>V | No |
ClinGen Ensembl |
|
|
rs1204458242 CA376213624 |
260 | P>S | No |
ClinGen TOPMed |
|
|
CA376213632 rs1317376629 |
261 | S>F | No |
ClinGen TOPMed |
|
|
CA5427687 rs782265840 |
261 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5427688 rs782345032 |
262 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs17852767 CA203672775 |
267 | D>Y | No |
ClinGen Ensembl |
|
|
CA5427689 rs535033369 |
268 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376213686 rs1340444990 |
270 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1564563098 CA376213698 |
272 | P>T | No |
ClinGen Ensembl |
|
|
CA5427691 rs782713744 |
273 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554827596 CA376213721 |
275 | I>V | No |
ClinGen gnomAD |
|
|
CA5427712 rs782334138 |
280 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs372301159 CA5427714 |
281 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781965771 CA5427713 |
281 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA376214142 rs1589101143 |
284 | F>L | No |
ClinGen Ensembl |
|
|
rs572373866 CA203674618 |
284 | F>S | No |
ClinGen Ensembl |
|
|
CA376214140 rs572373866 |
284 | F>Y | No |
ClinGen Ensembl |
|
|
rs1554828175 CA376214156 |
286 | D>G | No |
ClinGen gnomAD |
|
|
CA376214161 rs1293553344 |
287 | D>H | No |
ClinGen TOPMed |
|
|
rs1554828182 CA376214177 |
289 | Q>R | No |
ClinGen gnomAD |
|
|
rs1393699298 CA376214184 |
290 | V>E | No |
ClinGen TOPMed |
|
|
CA5427716 rs781886445 |
290 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201039968 CA203674629 CA5427718 |
291 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376214194 rs781822595 |
292 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5427719 rs781822595 |
292 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554828187 CA376214202 |
293 | I>T | No |
ClinGen gnomAD |
|
|
rs782500771 CA5427720 |
295 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs948819489 CA203674647 |
297 | P>L | No |
ClinGen Ensembl |
|
|
rs76048099 CA203674660 |
298 | E>D | No |
ClinGen Ensembl |
|
|
CA376214243 rs1162669332 |
299 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA376214238 rs868962186 |
299 | P>T | No |
ClinGen Ensembl |
|
|
CA376214252 rs1476081366 |
301 | F>V | No |
ClinGen TOPMed |
|
|
CA5427723 rs182401119 |
302 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376214259 rs182401119 |
302 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1418239984 CA376214277 |
304 | E>G | No |
ClinGen TOPMed |
|
|
CA203677018 rs371280959 |
305 | D>G | No |
ClinGen ESP |
|
|
rs1554828933 CA376214309 |
307 | M>V | No |
ClinGen gnomAD |
|
|
CA376214331 rs1365733644 |
309 | Q>H | No |
ClinGen TOPMed |
|
|
CA376214325 rs1432655674 |
309 | Q>K | No |
ClinGen TOPMed |
|
| TCGA novel | 312 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376214345 rs1554828942 |
312 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 313 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781913829 CA5427740 |
313 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5427741 rs143028815 |
316 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376214383 rs1554828946 |
317 | T>A | No |
ClinGen gnomAD |
|
|
rs1176909857 CA376214388 |
318 | D>H | No |
ClinGen TOPMed |
|
|
rs782121793 CA203677068 |
321 | D>A | No |
ClinGen Ensembl |
|
|
rs782121793 CA376214412 |
321 | D>G | No |
ClinGen Ensembl |
|
|
CA5427743 rs781817529 |
322 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1417993352 CA376214435 |
324 | P>R | No |
ClinGen TOPMed |
|
|
CA5427744 rs782493156 |
325 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782553909 CA5427745 |
326 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376214453 rs1554828958 |
327 | P>L | No |
ClinGen gnomAD |
|
|
CA5427746 rs782187629 |
328 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA376214462 rs1242967398 |
329 | L>V | No |
ClinGen TOPMed |
|
|
rs782537087 CA5427747 |
330 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554828961 CA376214475 |
331 | H>R | No |
ClinGen gnomAD |
|
|
rs1554828966 CA376214481 |
332 | L>F | No |
ClinGen gnomAD |
|
|
rs1459722565 CA376214489 |
333 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs782502288 CA376214508 |
334 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs979319364 CA203677129 |
334 | A>T | No |
ClinGen gnomAD |
|
|
rs782502288 CA5427768 |
334 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5427770 rs782233889 |
335 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs561051046 CA5427769 |
335 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1249705167 CA376214522 |
336 | C>* | No |
ClinGen TOPMed |
|
|
rs1461054860 CA376214544 |
339 | M>T | No |
ClinGen TOPMed |
|
|
rs1188944391 CA376214541 |
339 | M>V | No |
ClinGen TOPMed |
|
|
CA5427771 rs782441042 |
340 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5427772 rs782580550 |
342 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5427774 rs148262001 |
343 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5427775 rs781990449 |
346 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 349 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377433144 CA5427778 |
350 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5427779 rs782044601 |
352 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5427780 rs782724040 |
352 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs200821922 CA5427796 |
356 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs77105264 CA203677766 |
357 | L>I | No |
ClinGen Ensembl |
|
|
rs782223861 CA5427797 |
360 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5427798 rs782304224 |
362 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA203677769 COSM343828 rs112898248 |
362 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA5427800 rs782274582 |
365 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375811987 CA5427801 |
367 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5427802 rs781982423 |
368 | L>P | No |
ClinGen ExAC |
|
|
CA203677806 rs961506144 |
369 | S>A | No |
ClinGen gnomAD |
|
|
CA376214768 rs1554829142 |
371 | Y>C | No |
ClinGen gnomAD |
|
|
CA5427805 rs781923333 |
373 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376214786 rs1554829144 |
374 | L>* | No |
ClinGen gnomAD |
|
|
CA376214799 rs1248968519 |
375 | M>I | No |
ClinGen TOPMed |
|
|
rs781907224 CA376214828 |
379 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs781907224 CA5427808 |
379 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA376214825 rs1483323779 |
379 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA376214836 CA376214834 rs1323760986 |
380 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs537963189 CA5427810 |
380 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA5427811 rs200190968 |
383 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782486456 CA5427812 |
383 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348782409 CA376214862 |
384 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA203677845 rs970594067 |
386 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs970594067 CA376214872 |
386 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs541611499 CA5427813 |
390 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5427815 rs372136574 |
391 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376214909 rs372136574 |
391 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782677485 CA5427816 |
392 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5427817 rs782243151 |
393 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA376214936 rs1554829156 |
394 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 394 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782390264 CA5427818 |
395 | Q>R | No |
ClinGen ExAC |
|
|
rs1292179542 CA376214954 |
397 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1554829164 CA376214973 |
400 | S>F | No |
ClinGen gnomAD |
|
|
CA5427822 rs782021046 |
401 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5427823 rs782170532 |
401 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1554829166 CA376214982 |
402 | S>C | No |
ClinGen gnomAD |
|
|
CA5427840 rs782273741 |
404 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5427839 rs782273741 |
404 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782636427 CA5427841 |
405 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782270914 CA5427842 |
406 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1554829668 CA376215326 |
407 | G>E | No |
ClinGen gnomAD |
|
|
rs781979995 CA5427844 |
409 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1217406796 CA376215343 |
410 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1217406796 CA376215341 |
410 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1554829674 CA376215339 |
410 | P>S | No |
ClinGen gnomAD |
|
|
rs782534017 CA5427845 |
412 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA376215355 rs1554829682 |
412 | G>V | No |
ClinGen gnomAD |
|
|
rs782315946 CA5427846 |
414 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376215387 rs1283831499 |
418 | G>R | No |
ClinGen TOPMed |
|
|
CA376215396 rs1399242568 |
419 | N>I | No |
ClinGen TOPMed |
|
|
CA376215395 rs1554829687 |
419 | N>Y | No |
ClinGen gnomAD |
|
|
rs782010823 CA5427847 |
420 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782156340 COSM465517 CA5427848 |
420 | A>V | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1358687936 CA376215410 |
421 | Q>P | No |
ClinGen TOPMed |
|
|
rs900129901 CA203680114 |
422 | M>I | No |
ClinGen Ensembl |
|
|
CA376215422 rs1173961191 |
423 | S>G | No |
ClinGen TOPMed |
|
|
rs868919081 CA376215439 |
425 | L>F | No |
ClinGen Ensembl |
|
|
CA203680150 rs995945946 |
425 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA376215455 rs1193533978 |
427 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1193533978 CA376215453 |
427 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA376215459 rs1477073685 |
428 | Y>H | No |
ClinGen TOPMed |
|
|
rs1027378859 CA203680159 |
429 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 430 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5427855 rs114529501 |
431 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376019961 CA5427854 |
431 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368324610 CA5427856 |
432 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376215485 rs1554829714 |
432 | P>S | No |
ClinGen gnomAD |
|
|
CA5427859 rs782237766 |
436 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782606823 CA5427858 |
436 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA376215518 rs1554829720 |
437 | S>F | No |
ClinGen gnomAD |
|
|
rs150849046 CA5427860 |
439 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782587883 CA5427861 |
440 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs782265600 CA5427862 |
441 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA203680185 rs916581461 |
441 | A>T | No |
ClinGen Ensembl |
|
|
CA5427863 rs782429739 |
443 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781977378 CA5427864 |
444 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376215558 rs1378645252 |
444 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA376215555 rs781977378 |
444 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5427865 rs139331510 |
445 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376215559 rs1554829731 |
445 | P>T | No |
ClinGen gnomAD |
|
|
CA5427867 rs370853595 |
446 | S>F | No |
ClinGen ESP ExAC |
|
|
rs368172602 CA5427869 |
447 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5427870 rs371678791 |
447 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782113698 CA5427871 |
449 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5427872 rs782113698 |
449 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376215604 rs1171491242 |
453 | S>C | No |
ClinGen TOPMed |
|
|
rs781824632 CA5427874 |
453 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782107900 CA5427875 |
454 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA376215648 rs1243170144 |
459 | A>G | No |
ClinGen TOPMed |
|
|
CA5427877 rs375938525 |
459 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1554829762 CA376215653 |
460 | Y>S | No |
ClinGen gnomAD |
|
|
CA376215663 rs1564573834 |
461 | P>L | No |
ClinGen Ensembl |
|
|
CA376215665 rs1197974481 |
462 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs781848088 CA203682877 |
462 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs781817992 CA5427898 |
463 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1176595431 CA376215896 |
463 | T>K | No |
ClinGen TOPMed |
|
|
rs551327247 CA203682906 |
464 | M>I | No |
ClinGen 1000Genomes TOPMed |
|
|
CA376215902 rs1417675013 |
464 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5427899 rs782495202 |
464 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5427901 rs781806131 |
468 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA376215932 rs1554830489 |
469 | Q>E | No |
ClinGen gnomAD |
|
|
rs1554830491 CA376215944 |
470 | G>V | No |
ClinGen gnomAD |
|
|
rs1554830504 CA376215971 |
474 | P>R | No |
ClinGen gnomAD |
|
|
CA376215985 rs1256952565 |
476 | Q>R | No |
ClinGen TOPMed |
|
|
COSM182097 rs782638753 CA5427903 |
477 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM916862 rs370940096 CA5427904 |
477 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA376215996 rs1486974919 |
478 | P>Q | No |
ClinGen TOPMed |
|
|
rs1554830525 CA376215999 |
479 | V>I | No |
ClinGen gnomAD |
|
|
CA376216014 rs1554830531 |
481 | S>G | No |
ClinGen gnomAD |
|
|
CA5427908 rs782182453 |
481 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs979632292 CA203682953 |
482 | P>H | No |
ClinGen Ensembl |
|
|
CA5427909 rs782028019 |
482 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782368686 CA5427911 |
483 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs925409128 CA203682957 |
485 | A>D | No |
ClinGen TOPMed |
|
|
CA376216036 rs1220139083 |
485 | A>S | No |
ClinGen TOPMed |
|
|
CA376216062 rs377690223 |
489 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376216060 rs1303289904 |
489 | A>S | No |
ClinGen TOPMed |
|
|
CA5427916 rs377690223 |
489 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782062323 CA5427917 |
490 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376216072 rs1333083742 |
491 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5427918 rs782807282 |
492 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs140991080 CA5427919 |
493 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782522322 CA5427920 |
494 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA376216084 rs782522322 |
494 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1417402387 CA376216091 |
495 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA376216098 rs1554830567 |
496 | T>A | No |
ClinGen gnomAD |
|
|
CA5427921 rs782733181 |
496 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA376216106 rs868934522 |
497 | L>R | No |
ClinGen Ensembl |
|
|
rs781846010 CA5427922 |
499 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs782582591 CA5427924 |
500 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA5427923 rs782454144 |
500 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs988369336 CA203682990 |
501 | A>S | No |
ClinGen Ensembl |
|
|
CA203682993 rs912910513 |
502 | G>R | No |
ClinGen Ensembl |
|
|
CA5427928 rs782257932 |
503 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA5427929 rs782257932 |
503 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5427930 rs147965387 |
504 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782173104 CA5427931 |
505 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5427933 rs782014571 |
506 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA203683034 rs782591677 |
506 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5427932 rs782591677 |
506 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376216161 rs1554830599 |
507 | Q>E | No |
ClinGen gnomAD |
|
|
rs141738169 CA5427934 |
508 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781951684 CA5427936 |
509 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5427935 rs375357156 |
509 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376216188 rs1564578984 |
511 | Y>C | No |
ClinGen Ensembl |
|
|
rs782104481 CA5427937 |
511 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5427939 rs782704568 |
512 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs534630556 CA5427940 |
514 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5427941 rs142947051 |
518 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1554830615 CA376216237 |
519 | P>L | No |
ClinGen gnomAD |
|
|
CA376216236 rs1554830615 |
519 | P>R | No |
ClinGen gnomAD |
|
|
CA5427942 rs571885291 |
519 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376216240 rs1589124547 |
520 | Q>* | No |
ClinGen Ensembl |
|
|
CA376216249 rs1554830617 |
521 | P>R | No |
ClinGen gnomAD |
|
|
rs887586734 CA203683118 |
521 | P>S | No |
ClinGen TOPMed |
|
|
rs887586734 CA376216246 |
521 | P>T | No |
ClinGen TOPMed |
|
|
rs368325190 CA5427945 |
522 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5427946 rs150944654 |
527 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376216286 rs150944654 |
527 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA203683140 rs1014820929 |
528 | P>S | No |
ClinGen gnomAD |
|
|
rs1589124623 CA376216299 |
529 | Q>P | No |
ClinGen Ensembl |
|
|
CA5427948 rs782583229 |
531 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs539216891 CA5427949 |
532 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782416461 CA5427950 |
534 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs370852062 CA5427951 |
535 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5427953 rs782209813 |
537 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 538 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376216362 rs1554830630 |
538 | A>V | No |
ClinGen gnomAD |
No associated diseases with Q92783
4 regional properties for Q92783
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA recognition motif domain | 15 - 90 | IPR000504-1 |
| domain | RNA recognition motif domain | 112 - 188 | IPR000504-2 |
| domain | SRSF9, RNA recognition motif 1 | 16 - 87 | IPR034503 |
| domain | SRSF9, RNA recognition motif 2 | 104 - 187 | IPR034995 |
4 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. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| ESCRT-0 complex | A protein complex required for the recycling of Golgi proteins, formation of lumenal membranes and sorting of ubiquitinated proteins into those membranes. This complex includes Vps1p and Hse1p in yeast and the Hrs and STAM proteins in mammals. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidylinositol binding | Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| ubiquitin binding | Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation. |
| ubiquitin-like protein ligase binding | Binding to a ubiquitin-like protein ligase, such as ubiquitin-ligase. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| macroautophagy | The major inducible pathway for the general turnover of cytoplasmic constituents in eukaryotic cells, it is also responsible for the degradation of active cytoplasmic enzymes and organelles during nutrient starvation. Macroautophagy involves the formation of double-membrane-bounded autophagosomes which enclose the cytoplasmic constituent targeted for degradation in a membrane-bounded structure. Autophagosomes then fuse with a lysosome (or vacuole) releasing single-membrane-bounded autophagic bodies that are then degraded within the lysosome (or vacuole). Some types of macroautophagy, e.g. pexophagy, mitophagy, involve selective targeting of the targets to be degraded. |
| membrane fission | A process that is carried out at the cellular level which results in the separation of a single continuous membrane into two membranes. |
| multivesicular body assembly | The aggregation, arrangement and bonding together of a set of components to form a multivesicular body, a type of late endosome in which regions of the limiting endosomal membrane invaginate to form internal vesicles; membrane proteins that enter the internal vesicles are sequestered from the cytoplasm. |
| positive regulation of exosomal secretion | Any process that activates or increases the frequency, rate or extent of exosomal secretion. |
| protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway | The process of directing proteins towards the vacuole that contributes to protein catabolism via the multivesicular body (MVB) pathway. |
| regulation of extracellular exosome assembly | Any process that modulates the frequency, rate or extent of extracellular vesicular exosome assembly. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPLFATNPFD | QDVEKATSEM | NTAEDWGLIL | DICDKVGQSR | TGPKDCLRSI | MRRVNHKDPH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VAMQALTLLG | ACVSNCGKIF | HLEVCSRDFA | SEVSNVLNKG | HPKVCEKLKA | LMVEWTDEFK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NDPQLSLISA | MIKNLKEQGV | TFPAIGSQAA | EQAKASPALV | AKDPGTVANK | KEEEDLAKAI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ELSLKEQRQQ | STTLSTLYPS | TSSLLTNHQH | EGRKVRAIYD | FEAAEDNELT | FKAGEIITVL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DDSDPNWWKG | ETHQGIGLFP | SNFVTADLTA | EPEMIKTEKK | TVQFSDDVQV | ETIEPEPEPA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FIDEDKMDQL | LQMLQSTDPS | DDQPDLPELL | HLEAMCHQMG | PLIDEKLEDI | DRKHSELSEL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NVKVMEALSL | YTKLMNEDPM | YSMYAKLQNQ | PYYMQSSGVS | GSQVYAGPPP | SGAYLVAGNA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QMSHLQSYSL | PPEQLSSLSQ | AVVPPSANPA | LPSQQTQAAY | PNTMVSSVQG | NTYPSQAPVY |
| 490 | 500 | 510 | 520 | 530 | |
| SPPPAATAAA | ATADVTLYQN | AGPNMPQVPN | YNLTSSTLPQ | PGGSQQPPQP | QQPYSQKALL |