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.G493R

c.1477G>A

Surrounding Variants

1 paper

NM_001098671.2

p.G493R

c.1477G>C

1 paper

NM_001098671.2

p.G492fs

c.1474_1475fs

6 papers

NM_001098671.2

p.G493insFs

c.1479dupG

8 papers

NM_001098671.2

p.R494fs

c.1480_1481fs

1 paper

NM_001098671.2

p.L491_G492insFs

c.1473_1474insT

2 papers

NM_001098671.2

p.R494H

c.1481G>A

1 paper

NM_001098671.2

p.R494fs

c.1480_1481fs

3 papers

NM_001098671.2

p.S489C

c.1466C>G

1 paper

NM_001098671.2

p.F497L

c.1489T>C

4 papers

NM_001098671.2

p.F497fs

c.1489_1490fs

1 paper

NM_001098671.2

p.F497L

c.1491C>G

2 papers

NM_001098671.2

p.F497fs

c.1489_1490fs