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.H495Q

c.1485T>A

Surrounding Variants

1 paper

NM_001139488.2

p.H495Q

c.1485T>G

1 paper

NM_001139488.2

p.F493I

c.1477T>A

2 papers

NM_001139488.2

p.L479P

c.1436T>C

1 paper

NM_001139488.2

p.A512E

c.1535C>A

1 paper

NM_001139488.2

p.K471E

c.1411A>G

1 paper

NM_001139488.2

p.L515I

c.1543C>A

1 paper

NM_001139488.2

p.I519V

c.1555A>G

1 paper

NM_001139488.2

p.K524T

c.1571A>C

1 paper

NM_001139488.2

p.F454L

c.1362C>A

1 paper

NM_001139488.2

p.F454L

c.1362C>G

1 paper

NM_001139488.2

p.F454L

c.1360T>C

1 paper

NM_001139488.2

p.P453P

c.1359C>A