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.K269_N270Splc

c.807+5A>G

Surrounding Variants

1 paper

NM_001139488.2

p.L263I

c.787C>A

1 paper

NM_001139488.2

p.V245A

c.734T>C

1 paper

NM_001139488.2

p.V245L

c.733G>C

1 paper

NM_001139488.2

p.V245L

c.733G>T

1 paper

NM_001139488.2

p.N237D

c.709A>G

1 paper

NM_001139488.2

p.K230N

c.690G>C

1 paper

NM_001139488.2

p.K230N

c.690G>T

1 paper

NM_001139488.2

p.A229G

c.686C>G

1 paper

NM_001139488.2

p.S202C

c.605C>G

2 papers

NM_001139488.2

p.P189L

c.566C>T

1 paper

NM_001139488.2

p.E164D

c.492G>C

1 paper

NM_001139488.2

p.E164D

c.492G>T