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.T184A

c.550A>G

Surrounding Variants

1 paper

NM_005739.4

p.R195W

c.583C>T

1 paper

NM_005739.4

p.R195R

c.585G>A

1 paper

NM_005739.4

p.K196E

c.586A>G

2 papers

NM_005739.4

p.T214I

c.641C>T

1 paper

NM_005739.4

p.K219E

c.655A>G

1 paper

NM_005739.4

p.K219M

c.656A>T

1 paper

NM_005739.4

p.R222W

c.664C>T

2 papers

NM_005739.4

p.S225L

c.674C>T

1 paper

NM_005739.4

p.H165R

c.494A>G

1 paper

NM_005739.4

p.L164I

c.490T>A

1 paper

NM_005739.4

p.Q154L

c.461A>T

1 paper

NM_005739.4

p.M142I

c.426G>T