Varaico: Literature-Extracted Genetic Variants

Gene:RASGRP3
Variant:p.K8N

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
Selected Variant
1 paper
NM_001139488.2
p.K8N
c.24A>C
Surrounding Variants
1 paper
NM_001139488.2
p.K8N
c.24A>T
1 paper
NM_001139488.2
p.S4delFs
c.12delT
1 paper
NM_001139488.2
p.S4fs
c.10_11fs
1 paper
NM_001139488.2
p.L15P
c.44T>C
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.M1ins14
c.1_2ins42
1 paper
NM_001139488.2
p.M1insFs
c.1_2ins16
1 paper
NM_001139488.2
p.M1insFs
c.1_2ins38
1 paper
NM_001139488.2
p.M1ins3
c.1_2ins9
1 paper
NM_001139488.2
p.C19*
c.57C>A
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