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.K271_L272Splc

c.813+56C>T

Surrounding Variants

1 paper

NM_001098671.2

p.K271_L272Splc

c.813+1G>A

1 paper

NM_001098671.2

p.P267L

c.800C>T

1 paper

NM_001098671.2

p.V265I

c.793G>A

1 paper

NM_001098671.2

p.T261I

c.782C>T

3 papers

NM_001098671.2

p.E260*

c.778G>T

1 paper

NM_001098671.2

p.R257L

c.770G>T

1 paper

NM_001098671.2

p.S254P

c.760T>C

1 paper

NM_001098671.2

p.S251N

c.752G>A

16 papers

NM_001098671.2

p.G248W

c.742G>T

4 papers

NM_001098671.2

p.G248R

c.742G>C

4 papers

NM_001098671.2

p.G248R

c.742G>A

2 papers

NM_001098671.2

p.F240fs

c.718_719fs