Varaico: Literature-Extracted Genetic Variants

RASGRP3

77 papers

RefSeq Summary

The protein encoded by this gene is a guanine nucleotide exchange factor that activates the oncogenes HRAS and RAP1A. Defects in this gene have been associated with systemic lupus erythematosus and se...

Pfam Domains

RasGEFaa 155–331UCSCRasGEF domain

C1_1aa 495–547UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

Gene Aliases

HGNC Name

RAS guanyl releasing protein 3

HGNC Alias Symbols

KIAA0846; GRP3; CalDAG-GEFIII

Papers

RefSeq ID

Protein change

DNA change

1–12 of 99 variants

4 papers

NM_001139488.2

p.G282S

c.844G>A

2 papers

NM_001139488.2

p.P189L

c.566C>T

2 papers

NM_001139488.2

p.T393A

c.1177A>G

2 papers

NM_001139488.2

p.L479P

c.1436T>C

1 paper

NM_001139488.2

p.M1ins3

c.1_2ins9

1 paper

NM_001139488.2

p.M1insFs

c.1_2ins38

1 paper

NM_001139488.2

p.M1ins14

c.1_2ins42

1 paper

NM_001139488.2

p.M1insFs

c.1_2ins16

1 paper

NM_001139488.2

p.M1insFs

c.1_2ins25

1 paper

NM_001139488.2

p.M1insFs

c.1_2ins5

1 paper

NM_001139488.2

p.M1ins12

c.1_2ins36

1 paper

NM_001139488.2

p.S4fs

c.10_11fs