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

1–12 of 194 variants

16 papers

NM_001098671.2

p.G248W

c.742G>T

13 papers

NM_001098671.2

p.S381F

c.1142C>T

12 papers

NM_001098671.2

p.R113*

c.337C>T

9 papers

NM_001098671.2

p.Q236*

c.706C>T

9 papers

NM_001098671.2

p.G305D

c.914G>A

8 papers

NM_001098671.2

p.C296Y

c.887G>A

8 papers

NM_001098671.2

p.R494fs

c.1480_1481fs

7 papers

NM_001098671.2

p.L234P

c.701T>C

7 papers

NM_001098671.2

p.K309*

c.925A>T

6 papers

NM_001098671.2

p.L360del1

c.1078_1079delCAG

6 papers

NM_001098671.2

p.G493insFs

c.1479dupG

5 papers

NM_001098671.2

p.N330K

c.990C>G