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

Selected Variant

1 paper

NM_001139488.2

p.S122N

c.365G>A

Surrounding Variants

1 paper

NM_001139488.2

p.E112K

c.334G>A

1 paper

NM_001139488.2

p.R103W

c.307C>T

1 paper

NM_001139488.2

p.R97C

c.289C>T

1 paper

NM_001139488.2

p.L95F

c.285G>C

1 paper

NM_001139488.2

p.L95F

c.285G>T

1 paper

NM_001139488.2

p.R79Splc

c.237-133A>T

1 paper

NM_001139488.2

p.F70L

c.210T>A

1 paper

NM_001139488.2

p.F70L

c.210T>G

1 paper

NM_001139488.2

p.F70L

c.208T>C

1 paper

NM_001139488.2

p.I123Splc

c.369-1G>A

1 paper

NM_001139488.2

p.P124L

c.371C>T

1 paper

NM_001139488.2

p.W128R

c.382T>A