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.L360_L361insFs

c.1080_1081insG

Surrounding Variants

1 paper

NM_001098671.2

p.L361fs

c.1081_1082fs

6 papers

NM_001098671.2

p.L360del1

c.1078_1079delCAG

1 paper

NM_001098671.2

p.D359N

c.1075G>A

1 paper

NM_001098671.2

p.Q355*

c.1063C>T

4 papers

NM_001098671.2

p.S349I

c.1046G>T

1 paper

NM_001098671.2

p.A345V

c.1034C>T

5 papers

NM_001098671.2

p.A345P

c.1033G>C

1 paper

NM_001098671.2

p.E342V

c.1025A>T

1 paper

NM_001098671.2

p.K335M

c.1004A>T

1 paper

NM_001098671.2

p.K333N

c.999G>T

1 paper

NM_001098671.2

p.K333N

c.999G>C

1 paper

NM_001098671.2

p.K333E

c.997A>G