Q86X27
Gene name |
RALGPS2 |
Protein name |
Ras-specific guanine nucleotide-releasing factor RalGPS2 |
Names |
Ral GEF with PH domain and SH3-binding motif 2, RalA exchange factor RalGPS2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55103 |
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 Q86X27
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q86X27-F1 | Predicted | AlphaFoldDB |
372 variants for Q86X27
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA343835630 rs1572320308 |
2 | D>A | No |
ClinGen Ensembl |
|
rs754899009 CA1262785 |
3 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA343835636 rs1364789654 |
3 | L>V | No |
ClinGen TOPMed |
|
rs779009893 CA1262786 |
4 | M>V | No |
ClinGen ExAC gnomAD |
|
CA343835655 rs139533001 CA1262788 |
6 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA343835664 rs1249482932 |
7 | Q>R | No |
ClinGen gnomAD |
|
CA1262790 rs747177568 |
9 | S>N | No |
ClinGen ExAC gnomAD |
|
CA1262791 rs771166946 |
10 | S>T | No |
ClinGen ExAC gnomAD |
|
rs745958556 CA1262793 |
12 | N>S | No |
ClinGen ExAC gnomAD |
|
CA1262794 rs769918061 |
13 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA343835702 rs1176520075 |
13 | I>V | No |
ClinGen gnomAD |
|
CA343835707 rs1460102100 |
14 | A>T | No |
ClinGen gnomAD |
|
CA343835712 rs1558114586 |
14 | A>V | No |
ClinGen Ensembl |
|
rs183957608 CA1262795 |
16 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs560285002 CA1262796 |
16 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1289253355 CA343515634 |
20 | K>E | No |
ClinGen gnomAD |
|
rs1358671526 CA343515637 |
20 | K>R | No |
ClinGen gnomAD |
|
TCGA novel | 22 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1333283303 CA343515716 |
24 | S>P | No |
ClinGen gnomAD |
|
CA343515753 rs1223085650 |
26 | S>Y | No |
ClinGen gnomAD |
|
CA1262810 rs529516438 |
28 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1262809 rs529516438 |
28 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA343515888 rs1185416573 |
30 | K>N | No |
ClinGen gnomAD |
|
rs945138305 CA33580659 |
31 | G>S | No |
ClinGen TOPMed |
|
rs769834079 CA1262811 |
32 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA33580665 rs368406720 |
33 | E>D | No |
ClinGen ESP TOPMed |
|
TCGA novel | 35 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1262812 rs780230074 |
36 | K>E | No |
ClinGen ExAC gnomAD |
|
rs749705155 CA1262813 |
36 | K>T | No |
ClinGen ExAC gnomAD |
|
rs769233313 CA1262814 |
37 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA343516098 rs1164816307 |
41 | V>M | No |
ClinGen gnomAD |
|
CA343516140 rs1352110669 |
43 | F>S | No |
ClinGen gnomAD |
|
rs748539541 CA1262816 |
44 | D>N | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA1262817 rs748539541 |
44 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1362938233 CA343516236 |
49 | T>I | No |
ClinGen gnomAD |
|
TCGA novel | 55 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1438947899 CA343516515 |
55 | G>S | No |
ClinGen TOPMed |
|
rs1373533429 CA343516561 |
56 | Q>H | No |
ClinGen TOPMed |
|
CA343516567 rs773765796 |
57 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773765796 CA1262839 |
57 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA33580977 rs1019944068 |
59 | L>F | No |
ClinGen Ensembl |
|
rs1262193665 CA343516688 |
61 | D>G | No |
ClinGen gnomAD |
|
rs1201204431 CA343516672 |
61 | D>N | No |
ClinGen gnomAD |
|
TCGA novel | 62 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1262841 rs769517660 |
62 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1204726834 CA343516714 |
63 | P>L | No |
ClinGen gnomAD |
|
CA1262842 rs533561189 |
67 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1262843 rs553341800 |
68 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1199118039 CA343516893 |
70 | P>S | No |
ClinGen gnomAD |
|
rs567269357 CA1262844 |
71 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1262845 rs774239123 |
71 | D>V | No |
ClinGen ExAC gnomAD |
|
rs771997052 CA1262867 |
74 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 74 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1417233259 CA343522619 |
77 | G>R | No |
ClinGen TOPMed |
|
TCGA novel | 81 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1437964597 CA343522723 |
82 | E>G | No |
ClinGen gnomAD |
|
rs1170111994 CA343522714 |
82 | E>K | No |
ClinGen TOPMed |
|
CA343522740 rs1408576739 |
83 | K>Q | No |
ClinGen TOPMed |
|
CA343522814 rs1572353081 |
87 | A>T | No |
ClinGen Ensembl |
|
rs760502789 CA1262869 |
88 | P>L | No |
ClinGen ExAC gnomAD |
|
rs760502789 CA1262870 |
88 | P>Q | No |
ClinGen ExAC gnomAD |
|
rs75584817 CA1262871 |
89 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1572353101 CA343522870 |
90 | A>G | No |
ClinGen Ensembl |
|
rs765363891 CA1262873 |
91 | V>F | No |
ClinGen ExAC gnomAD |
|
CA33591655 rs955891342 |
98 | N>D | No |
ClinGen Ensembl |
|
rs956908856 CA33591661 |
98 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA1262875 rs758909193 |
99 | H>R | No |
ClinGen ExAC gnomAD |
|
CA343523612 rs1282632782 |
100 | V>I | No |
ClinGen TOPMed |
|
rs1330720337 CA343523783 |
108 | I>V | No |
ClinGen TOPMed |
|
rs760571571 CA343523810 |
110 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1262889 rs760571571 |
110 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1330862520 CA343523944 |
117 | R>S | No |
ClinGen TOPMed |
|
rs1410320963 CA343523962 |
119 | E>V | No |
ClinGen TOPMed |
|
CA343524010 rs1383560851 |
122 | S>G | No |
ClinGen TOPMed gnomAD |
|
rs752768831 CA1262894 |
124 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA343524068 rs1446040290 |
126 | K>* | No |
ClinGen TOPMed |
|
rs1385500528 CA343524089 |
127 | T>I | No |
ClinGen TOPMed |
|
rs1265194654 CA343525624 |
130 | K>E | No |
ClinGen TOPMed |
|
CA343525703 rs1327506943 |
134 | L>R | No |
ClinGen gnomAD |
|
rs1488700503 CA343525705 |
135 | N>H | No |
ClinGen TOPMed |
|
rs1335686705 CA343525711 |
135 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA1262912 rs373250030 |
137 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
rs745672599 CA1262913 CA33599441 |
138 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs1223086222 CA343525814 |
140 | L>V | No |
ClinGen gnomAD |
|
rs1036478651 CA33599448 |
141 | M>I | No |
ClinGen TOPMed |
|
rs775853168 CA1262915 |
149 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1193843751 CA343525976 COSM224820 |
150 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA1262917 rs764219449 |
151 | P>A | No |
ClinGen ExAC gnomAD |
|
rs774324563 CA1262918 |
152 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA343526062 rs1304081907 |
156 | T>I | No |
ClinGen TOPMed |
|
rs935741792 CA33599483 |
160 | A>V | No |
ClinGen gnomAD |
|
CA1262931 rs769688462 |
161 | L>F | No |
ClinGen ExAC |
|
TCGA novel | 164 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA343529668 rs1490060494 |
164 | R>G | No |
ClinGen gnomAD |
|
CA1262932 rs775446560 |
164 | R>Q | No |
ClinGen ExAC |
|
rs779308103 CA1262933 |
167 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1262934 rs768764029 |
168 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1262935 rs774427590 |
168 | T>I | No |
ClinGen ExAC |
|
rs1361577246 CA343529752 |
169 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs372827241 CA1262936 |
169 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
CA33605190 rs994515417 |
170 | F>L | No |
ClinGen TOPMed |
|
rs1191519056 CA343529774 |
171 | E>G | No |
ClinGen gnomAD |
|
rs773558199 CA1262938 |
177 | M>I | No |
ClinGen ExAC gnomAD |
|
CA343529850 rs1171085415 |
178 | S>T | No |
ClinGen gnomAD |
|
rs1364237796 CA343529865 |
180 | E>K | No |
ClinGen gnomAD |
|
CA1262939 rs751063535 |
183 | Y>* | No |
ClinGen ExAC gnomAD |
|
rs1294117234 CA343529891 |
183 | Y>C | No |
ClinGen gnomAD |
|
rs138528833 CA1262940 |
184 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1295089642 CA343529904 |
185 | R>K | No |
ClinGen gnomAD |
|
rs140883827 CA1262942 |
190 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1572379702 CA343529954 |
192 | S>G | No |
ClinGen Ensembl |
|
TCGA novel | 194 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs983908564 CA33605241 |
194 | K>R | No |
ClinGen Ensembl |
|
rs1358563506 CA343529979 |
195 | M>R | No |
ClinGen gnomAD |
|
CA1262943 rs754235227 |
195 | M>V | No |
ClinGen ExAC gnomAD |
|
CA33605261 rs954289506 |
196 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA1262944 rs757982920 |
201 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1191428641 CA343530030 |
202 | L>I | No |
ClinGen TOPMed |
|
rs1355449237 CA343531860 |
204 | I>V | No |
ClinGen TOPMed |
|
TCGA novel | 208 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1263303 rs753527124 |
210 | T>I | No |
ClinGen ExAC |
|
rs961943927 CA343531983 |
213 | D>H | No |
ClinGen TOPMed gnomAD |
|
CA33597833 rs961943927 |
213 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs561069653 CA1263308 |
220 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
rs1362475250 CA343532046 |
221 | S>G | No |
ClinGen gnomAD |
|
VAR_039468 rs35161510 CA1263310 |
225 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1263311 rs781536253 |
230 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1432958289 CA343532117 |
231 | L>V | No |
ClinGen gnomAD |
|
rs1312301072 CA343532143 |
234 | N>S | No |
ClinGen gnomAD |
|
CA1263312 rs746154442 |
235 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1327086668 CA343532153 |
235 | I>M | No |
ClinGen gnomAD |
|
CA343532151 rs1416908628 |
235 | I>T | No |
ClinGen gnomAD |
|
rs746154442 CA343532148 |
235 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1263333 rs746041179 |
249 | D>G | No |
ClinGen ExAC gnomAD |
|
CA33598640 rs970602719 |
250 | I>S | No |
ClinGen TOPMed |
|
rs970602719 CA33598645 |
250 | I>T | No |
ClinGen TOPMed |
|
CA1263334 rs756367569 |
252 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1315562591 CA343532422 |
254 | P>S | No |
ClinGen TOPMed |
|
CA343532509 rs1219836877 |
260 | L>F | No |
ClinGen TOPMed |
|
CA343532526 rs1355348354 |
261 | N>D | No |
ClinGen TOPMed |
|
CA343532545 rs1467404848 |
263 | V>I | No |
ClinGen gnomAD |
|
CA1263336 rs749379360 |
265 | Y>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 268 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1263339 rs748675258 |
270 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1000700184 CA33598684 |
274 | E>D | No |
ClinGen TOPMed |
|
rs1171455058 CA343532724 |
276 | D>A | No |
ClinGen TOPMed |
|
CA1263340 rs772384760 |
276 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1171455058 CA343532726 |
276 | D>V | No |
ClinGen TOPMed |
|
TCGA novel | 276 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1032537410 CA33598691 |
279 | K>R | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 280 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA343532876 rs1463492647 |
286 | P>A | No |
ClinGen TOPMed |
|
TCGA novel | 287 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs748587348 CA1263357 |
289 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1013742307 CA33604773 |
290 | T>A | No |
ClinGen gnomAD |
|
rs1269877762 CA343532910 |
291 | P>L | No |
ClinGen TOPMed |
|
rs781045286 CA1263358 |
292 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1263359 rs376507694 |
292 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA343532919 rs1294330725 |
293 | S>F | No |
ClinGen gnomAD |
|
CA343532922 rs1214353129 |
294 | A>P | No |
ClinGen gnomAD |
|
rs771241252 CA1263362 |
295 | A>P | No |
ClinGen ExAC gnomAD |
|
rs771241252 CA1263361 |
295 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1486238202 CA343532937 |
297 | R>G | No |
ClinGen gnomAD |
|
CA1263363 rs762719313 |
298 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA343532956 rs1485446607 |
299 | D>G | No |
ClinGen gnomAD |
|
rs1188887996 CA343532962 |
300 | L>S | No |
ClinGen gnomAD |
|
CA343532960 rs1386801126 |
300 | L>V | No |
ClinGen gnomAD |
|
rs1479541594 CA343533324 |
304 | E>K | No |
ClinGen gnomAD |
|
CA33605619 rs1025199782 |
305 | V>A | No |
ClinGen Ensembl |
|
rs1176359381 CA343533343 |
305 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA33605620 rs984768061 |
306 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA1263379 rs61758797 |
307 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1434796893 CA343533453 |
312 | G>E | No |
ClinGen gnomAD |
|
CA33605635 rs943234484 |
313 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA1263381 COSM137791 rs375227301 |
313 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA343533472 rs1351583549 |
314 | K>E | No |
ClinGen TOPMed |
|
rs1352347519 CA343533478 |
314 | K>R | No |
ClinGen gnomAD |
|
rs774192387 CA1263384 |
316 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1263383 rs768441740 |
316 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA33605642 rs768441740 |
316 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761407856 CA1263385 |
317 | A>T | No |
ClinGen ExAC gnomAD |
|
CA1263386 rs771543522 |
318 | A>G | No |
ClinGen ExAC gnomAD |
|
rs771543522 CA1263387 |
318 | A>V | No |
ClinGen ExAC gnomAD |
|
CA343533548 rs1281018405 |
319 | E>G | No |
ClinGen gnomAD |
|
rs771749153 CA33605664 |
319 | E>K | No |
ClinGen Ensembl |
|
CA343533581 rs1251721176 |
321 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA1263388 rs138192388 |
321 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1458914830 CA343533623 |
324 | P>L | No |
ClinGen gnomAD |
|
CA343533630 rs766160005 |
325 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA1263389 rs766160005 |
325 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA1263392 rs569583893 |
327 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1263391 rs759376165 |
327 | P>S | No |
ClinGen ExAC gnomAD |
|
CA1263395 rs777726293 |
331 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1401557973 CA343533726 |
331 | R>W | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 335 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1263396 rs752034302 |
335 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA33605743 rs747611941 |
336 | H>D | No |
ClinGen Ensembl |
|
CA1263397 rs200697658 |
336 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1042167507 CA33605752 COSM900183 |
336 | H>R | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA1263398 rs552069010 |
337 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs770353126 CA1263400 |
338 | H>Q | No |
ClinGen ExAC |
|
rs1359928383 CA343533834 |
338 | H>R | No |
ClinGen gnomAD |
|
TCGA novel | 340 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA343533898 rs1485512562 |
341 | C>S | No |
ClinGen TOPMed gnomAD |
|
CA1263402 rs747819408 |
342 | H>R | No |
ClinGen ExAC gnomAD |
|
CA1263401 rs61758794 |
342 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs772630091 CA1263404 |
346 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA343533997 rs1232223920 |
346 | Y>S | No |
ClinGen TOPMed |
|
rs1340915790 CA343534297 |
350 | H>Q | No |
ClinGen gnomAD |
|
rs1167236357 CA343534308 |
351 | K>E | No |
ClinGen TOPMed |
|
CA343534312 rs1572450925 |
351 | K>R | No |
ClinGen Ensembl |
|
CA343534337 rs1277723604 |
352 | M>I | No |
ClinGen gnomAD |
|
rs769510660 CA1263431 |
352 | M>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 355 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1263432 rs775293591 |
356 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs763184002 CA1263433 |
357 | F>L | No |
ClinGen ExAC gnomAD |
|
CA343534475 rs544612091 |
357 | F>L | No |
ClinGen TOPMed |
|
rs1256339288 CA343534585 |
361 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA343534604 rs1443368433 |
361 | T>M | No |
ClinGen gnomAD |
|
rs1254895381 CA343534679 |
364 | N>S | No |
ClinGen TOPMed |
|
CA1263436 rs761790935 |
365 | A>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 366 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA343534795 rs767721965 |
369 | H>L | No |
ClinGen ExAC gnomAD |
|
rs767721965 CA1263437 |
369 | H>P | No |
ClinGen ExAC gnomAD |
|
CA343534791 rs767721965 |
369 | H>R | No |
ClinGen ExAC gnomAD |
|
CA33606404 rs971827959 |
369 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1159764211 CA343534822 |
370 | L>P | No |
ClinGen gnomAD |
|
TCGA novel | 372 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs756722160 CA343534904 COSM354091 |
374 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA1263441 rs370106815 |
375 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1263440 rs370106815 |
375 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1415988718 CA343534928 |
376 | M>R | No |
ClinGen gnomAD |
|
TCGA novel | 378 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs746733114 CA1263444 |
379 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777287192 CA1263443 |
379 | H>R | No |
ClinGen ExAC gnomAD |
|
rs780683289 CA1263446 |
380 | A>T | No |
ClinGen ExAC gnomAD |
|
CA1263447 rs149978883 |
380 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 381 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1263450 rs747971729 |
383 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768557058 CA1263451 |
383 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1193686294 CA343535115 |
387 | E>G | No |
ClinGen gnomAD |
|
CA33606513 rs989252100 |
388 | S>N | No |
ClinGen TOPMed |
|
rs1389609704 CA343535158 |
389 | S>F | No |
ClinGen TOPMed |
|
rs774381829 CA33606518 |
390 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA343535164 rs1457591220 |
390 | T>N | No |
ClinGen gnomAD |
|
CA1263452 rs774381829 |
390 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1263453 rs570373045 |
391 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
COSM1601293 rs1452681128 CA343535219 |
393 | S>G | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1452681128 CA343535204 |
393 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs1460690428 CA343535241 |
395 | I>L | No |
ClinGen TOPMed |
|
rs1378238328 CA343535293 |
397 | I>T | No |
ClinGen gnomAD |
|
CA33606537 rs941164141 |
397 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs768273199 CA1263472 |
398 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1263475 rs368999235 |
401 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1263474 rs748272969 |
401 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1263473 rs778802743 |
401 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 403 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs760832666 CA1263477 |
407 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1280539376 CA343536837 |
409 | T>I | No |
ClinGen gnomAD |
|
TCGA novel | 409 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs948551998 CA33608617 |
410 | S>L | No |
ClinGen TOPMed gnomAD |
|
rs1390097199 CA343536879 |
412 | P>L | No |
ClinGen TOPMed |
|
TCGA novel | 413 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 413 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 416 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1420914140 CA343537185 |
417 | N>K | No |
ClinGen gnomAD |
|
rs778128892 CA1263494 |
417 | N>S | No |
ClinGen ExAC gnomAD |
|
rs747247523 CA1263495 |
418 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1358167326 CA343537213 |
419 | L>S | No |
ClinGen gnomAD |
|
CA33609950 rs1034359855 |
421 | H>R | No |
ClinGen gnomAD |
|
rs1381769066 CA343537267 |
422 | S>T | No |
ClinGen gnomAD |
|
CA33609958 rs868076933 |
422 | S>Y | No |
ClinGen Ensembl |
|
rs571686108 CA1263497 |
423 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1263499 rs770309544 COSM1744234 |
424 | G>S | biliary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA1263500 rs775899673 |
425 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1263502 rs764496879 |
427 | T>S | No |
ClinGen ExAC gnomAD |
|
rs1015751889 CA33609977 |
428 | R>G | No |
ClinGen Ensembl |
|
CA343537331 rs1211055707 |
428 | R>K | No |
ClinGen TOPMed gnomAD |
|
rs1257598047 CA343537335 |
428 | R>S | No |
ClinGen gnomAD |
|
CA343537350 rs1479531913 |
430 | A>P | No |
ClinGen gnomAD |
|
rs765759349 CA1263505 |
431 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs753369086 CA1263506 |
431 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1572456674 CA343537378 |
432 | N>S | No |
ClinGen Ensembl |
|
TCGA novel | 433 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1263507 rs754487575 |
433 | G>V | No |
ClinGen ExAC gnomAD |
|
rs373862016 CA1263508 |
434 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA33610014 rs1044517209 |
434 | Y>D | No |
ClinGen TOPMed |
|
rs140033977 CA1263509 |
435 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA343537402 rs1328980596 COSM900186 |
435 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA1263511 rs764684407 |
438 | M>V | No |
ClinGen ExAC gnomAD |
|
rs1331278356 CA343537460 |
441 | S>G | No |
ClinGen gnomAD |
|
rs747194398 CA1263512 |
442 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1026358352 CA33610056 |
442 | S>R | No |
ClinGen TOPMed |
|
CA1263513 rs747194398 |
442 | S>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 444 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1263529 rs751376768 |
444 | A>V | No |
ClinGen ExAC gnomAD |
|
rs757039833 CA1263530 |
446 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
TCGA novel | 446 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1263531 rs368548808 |
447 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA33611062 rs1034956066 |
450 | A>G | No |
ClinGen TOPMed gnomAD |
|
rs750664852 CA1263532 |
450 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1264427265 CA343537762 |
452 | H>R | No |
ClinGen gnomAD |
|
CA1263533 rs756157066 |
454 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA343537820 rs1558174987 |
456 | G>E | No |
ClinGen Ensembl |
|
CA1263535 rs749750981 |
459 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1363870732 CA343537905 |
464 | L>V | No |
ClinGen gnomAD |
|
TCGA novel | 467 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1191479003 CA343537968 |
469 | L>S | No |
ClinGen TOPMed |
|
CA1263538 rs779439672 |
472 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1299026846 CA343538022 |
473 | G>S | No |
ClinGen gnomAD |
|
rs1445469240 CA343538056 |
475 | K>N | No |
ClinGen gnomAD |
|
rs1236826885 CA343538151 |
482 | T>A | No |
ClinGen gnomAD |
|
rs778029631 CA1263561 |
486 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1245456491 CA343538185 |
486 | A>V | No |
ClinGen gnomAD |
|
rs888632393 CA33613712 |
487 | A>T | No |
ClinGen TOPMed |
|
rs1477192943 CA343538203 |
489 | C>F | No |
ClinGen gnomAD |
|
CA1263563 rs769546705 |
491 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762545723 CA1263565 |
496 | Y>* | No |
ClinGen ExAC gnomAD |
|
rs775320151 CA1263564 |
496 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA33613735 rs964515749 |
497 | A>S | No |
ClinGen TOPMed |
|
rs1329252038 CA343538260 |
498 | A>S | No |
ClinGen gnomAD |
|
CA33613743 rs998263209 |
502 | K>M | No |
ClinGen TOPMed |
|
CA33613748 rs965728955 |
504 | T>A | No |
ClinGen Ensembl |
|
CA1263566 COSM331140 rs560266005 |
505 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs1328832042 CA343538325 |
508 | H>Y | No |
ClinGen gnomAD |
|
CA33616658 rs79385761 |
509 | F>L | No |
ClinGen Ensembl |
|
rs967937341 CA33616661 |
512 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA1263588 rs773270931 |
514 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA343538589 rs760451241 |
516 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776769188 CA1263591 |
517 | V>E | No |
ClinGen ExAC gnomAD |
|
CA1263590 rs766175478 |
517 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs759787021 CA33616681 |
520 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1263593 rs765310482 |
520 | I>T | No |
ClinGen ExAC gnomAD |
|
rs759787021 CA1263592 |
520 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 522 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA343538671 rs1400938790 |
523 | M>L | No |
ClinGen TOPMed gnomAD |
|
CA343538669 rs1400938790 |
523 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA343538691 rs1247865603 |
524 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs1298408946 CA343538685 |
524 | V>M | No |
ClinGen gnomAD |
|
TCGA novel | 527 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1448029826 CA343538760 |
529 | D>G | No |
ClinGen gnomAD |
|
CA1263594 rs752695834 |
530 | P>R | No |
ClinGen ExAC gnomAD |
|
CA343538784 rs1250458150 |
532 | H>Y | No |
ClinGen TOPMed |
|
rs1244670148 CA343538793 |
533 | P>S | No |
ClinGen gnomAD |
|
CA343538798 rs1385434716 |
534 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA1263595 rs758545019 |
535 | L>F | No |
ClinGen ExAC gnomAD |
|
CA343538808 rs1361673118 |
535 | L>P | No |
ClinGen gnomAD |
|
rs758545019 CA343538806 |
535 | L>V | No |
ClinGen ExAC gnomAD |
|
CA343538830 rs1488507476 |
539 | T>P | No |
ClinGen gnomAD |
|
TCGA novel | 542 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA33616700 rs112005689 |
543 | K>E | No |
ClinGen Ensembl |
|
TCGA novel | 546 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM284461 CA1263618 rs762927733 |
546 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1445158837 CA343539459 |
549 | F>C | No |
ClinGen gnomAD |
|
TCGA novel | 550 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA343539470 rs1330788255 |
551 | A>T | No |
ClinGen gnomAD |
|
rs1384011613 CA343539476 |
552 | G>S | No |
ClinGen TOPMed |
|
CA343539493 rs1282503375 |
554 | R>T | No |
ClinGen gnomAD |
|
rs1572472162 CA343539506 |
555 | M>I | No |
ClinGen Ensembl |
|
TCGA novel | 557 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA343539551 rs1364349066 |
560 | W>R | No |
ClinGen TOPMed |
|
rs945621746 CA33619774 |
563 | H>R | No |
ClinGen Ensembl |
|
CA343539589 rs1572472179 |
563 | H>Y | No |
ClinGen Ensembl |
|
rs1311444928 CA343539612 |
565 | S>N | No |
ClinGen gnomAD |
|
rs1233670493 CA343539621 |
566 | A>T | No |
ClinGen gnomAD |
|
rs867254115 CA33619779 |
566 | A>V | No |
ClinGen Ensembl |
|
rs377169706 CA1263636 |
575 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
CA33782660 rs377169706 |
575 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
rs1203819239 CA343838382 |
577 | T>A | No |
ClinGen TOPMed |
|
rs369314414 CA1263637 |
578 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1263639 rs762026927 |
579 | L>V | No |
ClinGen ExAC gnomAD |
|
CA343838431 rs1272589222 |
584 | E>Q | No |
ClinGen TOPMed |
1 associated diseases with Q86X27
Without disease ID
2 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
Name | Definition |
---|---|
guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
3 GO annotations of biological process
Name | Definition |
---|---|
positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
Ras protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. |
regulation of Ral protein signal transduction | Any process that modulates the frequency, rate or extent of Ral protein signal transduction. |
30 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
A6N9I4 | RASGRP2 | RAS guanyl-releasing protein 2 | Bos taurus (Bovine) | SS |
Q1LZ97 | RASGRP4 | RAS guanyl-releasing protein 4 | Bos taurus (Bovine) | SS |
A0A3S5ZPR1 | RASGRP3 | RAS guanyl releasing protein 3 | Gallus gallus (Chicken) | SS |
P26675 | Sos | Protein son of sevenless | Drosophila melanogaster (Fruit fly) | SS |
Q07890 | SOS2 | Son of sevenless homolog 2 | Homo sapiens (Human) | SS |
Q07889 | SOS1 | Son of sevenless homolog 1 | Homo sapiens (Human) | EV |
Q13905 | RAPGEF1 | Rap guanine nucleotide exchange factor 1 | Homo sapiens (Human) | PR |
O95398 | RAPGEF3 | Rap guanine nucleotide exchange factor 3 | Homo sapiens (Human) | EV |
Q8WZA2 | RAPGEF4 | Rap guanine nucleotide exchange factor 4 | Homo sapiens (Human) | SS |
Q8N431 | RASGEF1C | Ras-GEF domain-containing family member 1C | Homo sapiens (Human) | PR |
Q8N9B8 | RASGEF1A | Ras-GEF domain-containing family member 1A | Homo sapiens (Human) | PR |
Q8IZJ4 | RGL4 | Ral-GDS-related protein | Homo sapiens (Human) | PR |
Q12967 | RALGDS | Ral guanine nucleotide dissociation stimulator | Homo sapiens (Human) | PR |
O95267 | RASGRP1 | RAS guanyl-releasing protein 1 | Homo sapiens (Human) | EV |
Q8TDF6 | RASGRP4 | RAS guanyl-releasing protein 4 | Homo sapiens (Human) | SS |
Q7LDG7 | RASGRP2 | RAS guanyl-releasing protein 2 | Homo sapiens (Human) | EV SS |
Q8IV61 | RASGRP3 | Ras guanyl-releasing protein 3 | Homo sapiens (Human) | SS |
Q5JS13 | RALGPS1 | Ras-specific guanine nucleotide-releasing factor RalGPS1 | Homo sapiens (Human) | PR |
Q62245 | Sos1 | Son of sevenless homolog 1 | Mus musculus (Mouse) | SS |
Q8BTM9 | Rasgrp4 | RAS guanyl-releasing protein 4 | Mus musculus (Mouse) | SS |
Q9Z1S3 | Rasgrp1 | RAS guanyl-releasing protein 1 | Mus musculus (Mouse) | SS |
Q9QUG9 | Rasgrp2 | RAS guanyl-releasing protein 2 | Mus musculus (Mouse) | SS |
Q02384 | Sos2 | Son of sevenless homolog 2 | Mus musculus (Mouse) | SS |
A2AR50 | Ralgps1 | Ras-specific guanine nucleotide-releasing factor RalGPS1 | Mus musculus (Mouse) | PR |
Q9ERD6 | Ralgps2 | Ras-specific guanine nucleotide-releasing factor RalGPS2 | Mus musculus (Mouse) | PR |
Q9R1K8 | Rasgrp1 | RAS guanyl-releasing protein 1 | Rattus norvegicus (Rat) | SS |
P0C643 | Rasgrp2 | RAS guanyl-releasing protein 2 | Rattus norvegicus (Rat) | SS |
Q8R5I4 | Rasgrp4 | RAS guanyl-releasing protein 4 | Rattus norvegicus (Rat) | SS |
Q9N5D3 | sos-1 | Son of sevenless homolog | Caenorhabditis elegans | EV |
A4IJ06 | rasgrp1 | RAS guanyl-releasing protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MDLMNGQASS | VNIAATASEK | SSSSESLSDK | GSELKKSFDA | VVFDVLKVTP | EEYAGQITLM |
70 | 80 | 90 | 100 | 110 | 120 |
DVPVFKAIQP | DELSSCGWNK | KEKYSSAPNA | VAFTRRFNHV | SFWVVREILH | AQTLKIRAEV |
130 | 140 | 150 | 160 | 170 | 180 |
LSHYIKTAKK | LYELNNLHAL | MAVVSGLQSA | PIFRLTKTWA | LLSRKDKTTF | EKLEYVMSKE |
190 | 200 | 210 | 220 | 230 | 240 |
DNYKRLRDYI | SSLKMTPCIP | YLGIYLSDLT | YIDSAYPSTG | SILENEQRSN | LMNNILRIIS |
250 | 260 | 270 | 280 | 290 | 300 |
DLQQSCEYDI | PMLPHVQKYL | NSVQYIEELQ | KFVEDDNYKL | SLKIEPGTST | PRSAASREDL |
310 | 320 | 330 | 340 | 350 | 360 |
VGPEVGASPQ | SGRKSVAAEG | ALLPQTPPSP | RNLIPHGHRK | CHSLGYNFIH | KMNTAEFKSA |
370 | 380 | 390 | 400 | 410 | 420 |
TFPNAGPRHL | LDDSVMEPHA | PSRGQAESST | LSSGISIGSS | DGSELSEETS | WPAFERNRLY |
430 | 440 | 450 | 460 | 470 | 480 |
HSLGPVTRVA | RNGYRSHMKA | SSSAESEDLA | VHLYPGAVTI | QGVLRRKTLL | KEGKKPTVAS |
490 | 500 | 510 | 520 | 530 | 540 |
WTKYWAALCG | TQLFYYAAKS | LKATERKHFK | STSNKNVSVI | GWMVMMADDP | EHPDLFLLTD |
550 | 560 | 570 | 580 | ||
SEKGNSYKFQ | AGNRMNAMLW | FKHLSAACQS | NKQQVPTNLM | TFE |