Varaico: Literature-Extracted Genetic Variants

RASGRP2

150 papers

RefSeq Summary

The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglyc...

Pfam Domains

RasGEF_Naa 9–103UCSCRasGEF N-terminal motif

RasGEFaa 157–335UCSCRasGEF domain

EF-hand_5aa 461–485UCSCEF hand

C1_1aa 499–551UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

Gene Aliases

HGNC Name

RAS guanyl releasing protein 2

HGNC Alias Symbol

CALDAG-GEFI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001098671.2

p.S397R

c.1191T>G

Surrounding Variants

1 paper

NM_001098671.2

p.S397R

c.1191T>A

1 paper

NM_001098671.2

p.C398S

c.1192T>A

2 papers

NM_001098671.2

p.C398S

c.1193G>C

1 paper

NM_001098671.2

p.S397R

c.1189A>C

1 paper

NM_001098671.2

p.T393P

c.1177A>C

1 paper

NM_001098671.2

p.S391_P392Splc

c.1174-1G>T

1 paper

NM_001098671.2

p.V406E

c.1217T>A

1 paper

NM_001098671.2

p.E408G

c.1223A>G

1 paper

NM_001098671.2

p.A413T

c.1237G>A

1 paper

NM_001098671.2

p.V423M

c.1267G>A

1 paper

NM_001098671.2

p.V424M

c.1270G>A

1 paper

NM_001098671.2

p.I427fs

c.1279_1280fs