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.S264R

c.792C>A

Surrounding Variants

1 paper

NM_005739.4

p.S264R

c.792C>G

1 paper

NM_005739.4

p.S264N

c.791G>A

1 paper

NM_005739.4

p.S264R

c.790A>C

1 paper

NM_005739.4

p.R271*

c.811C>T

4 papers

NM_005739.4

p.W257*

c.771G>A

3 papers

NM_005739.4

p.W257*

c.770G>A

1 paper

NM_005739.4

p.S247Y

c.740C>A

1 paper

NM_005739.4

p.R246Q

c.737G>A

5 papers

NM_005739.4

p.R246*

c.736C>T

3 papers

NM_005739.4

p.P242P

c.726C>T

1 paper

NM_005739.4

p.V234A

c.701T>C

1 paper

NM_005739.4

p.F226L

c.678C>G