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.R113fs

c.337_338fs

Surrounding Variants

2 papers

NM_001098671.2

p.R113delFs

c.337delG

12 papers

NM_001098671.2

p.R113*

c.337C>T

1 paper

NM_001098671.2

p.R113fs

c.337_338fs

1 paper

NM_001098671.2

p.L118V

c.352C>G

1 paper

NM_001098671.2

p.D120H

c.358G>C

1 paper

NM_001098671.2

p.S123S

c.369C>T

1 paper

NM_001098671.2

p.V124L

c.370G>C

2 papers

NM_001098671.2

p.E102D

c.306G>T

2 papers

NM_001098671.2

p.E102D

c.306G>C

1 paper

NM_001098671.2

p.V124Splc

c.371+3G>A

1 paper

NM_001098671.2

p.V124Splc

c.371+7G>C

2 papers

NM_001098671.2

p.P94L

c.281C>T