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

2 papers

NM_001098671.2

p.F501L

c.1503C>A

Surrounding Variants

2 papers

NM_001098671.2

p.F501L

c.1503C>G

2 papers

NM_001098671.2

p.F501L

c.1501T>C

1 paper

NM_001098671.2

p.E503*

c.1507G>T

1 paper

NM_001098671.2

p.N505K

c.1515C>G

1 paper

NM_001098671.2

p.F497L

c.1491C>G

2 papers

NM_001098671.2

p.F497fs

c.1489_1490fs

1 paper

NM_001098671.2

p.N505K

c.1515C>A

1 paper

NM_001098671.2

p.F497L

c.1491C>A

5 papers

NM_001098671.2

p.F497delFs

c.1490delA

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.R494fs

c.1480_1481fs