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

3 papers

NM_001098671.2

p.P319L

c.956C>T

Surrounding Variants

1 paper

NM_001098671.2

p.L318Q

c.953T>A

1 paper

NM_001098671.2

p.T327N

c.980C>A

4 papers

NM_001098671.2

p.R328W

c.982C>T

7 papers

NM_001098671.2

p.K309*

c.925A>T

1 paper

NM_001098671.2

p.N330I

c.989A>T

5 papers

NM_001098671.2

p.N330K

c.990C>G

5 papers

NM_001098671.2

p.N330K

c.990C>A

1 paper

NM_001098671.2

p.V306M

c.916G>A

1 paper

NM_001098671.2

p.K333E

c.997A>G

9 papers

NM_001098671.2

p.G305D

c.914G>A

1 paper

NM_001098671.2

p.K333N

c.999G>T

1 paper

NM_001098671.2

p.K333N

c.999G>C