Varaico: Literature-Extracted Genetic Variants

RASGRP1

113 papers

RefSeq Summary

This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleoti...

Pfam Domains

RasGEF_Naa 57–153UCSCRasGEF N-terminal motif

RasGEFaa 208–384UCSCRasGEF domain

C1_1aa 542–594UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

Gene Aliases

HGNC Name

RAS guanyl releasing protein 1

HGNC Alias Symbol

CalDAG-GEFII

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005739.4

p.A638fs

c.1912_1913fs

Surrounding Variants

2 papers

NM_005739.4

p.E637insFs

c.1910_1911insAG

1 paper

NM_005739.4

p.E637_A638insFs

c.1911_1912insAG

1 paper

NM_005739.4

p.R648W

c.1942C>T

1 paper

NM_005739.4

p.S661A

c.1981T>G

1 paper

NM_005739.4

p.G685D

c.2054G>A

1 paper

NM_005739.4

p.G688S

c.2062G>A

1 paper

NM_005739.4

p.A699A

c.2097C>A

1 paper

NM_005739.4

p.C713G

c.2137T>G

1 paper

NM_005739.4

p.C713R

c.2137T>C

1 paper

NM_005739.4

p.R720I

c.2159G>T

1 paper

NM_005739.4

p.R722Q

c.2165G>A

2 papers

NM_005739.4

p.W727*

c.2180G>A