Varaico: Literature-Extracted Genetic Variants

Gene:RASGRP1
Variant:p.K322*

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)
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
2 papers
NM_005739.4
p.K322*
c.964A>T
Surrounding Variants
1 paper
NM_005739.4
p.N321S
c.962A>G
1 paper
NM_005739.4
p.K322_V323Splc
c.966+1G>T
1 paper
NM_005739.4
p.K322_V323Splc
c.966+5G>A
2 papers
NM_005739.4
p.S314L
c.941C>T
1 paper
NM_005739.4
p.S314*
c.941C>A
1 paper
NM_005739.4
p.T312A
c.934A>G
1 paper
NM_005739.4
p.S307L
c.920C>T
1 paper
NM_005739.4
p.H303N
c.907C>A
1 paper
NM_005739.4
p.L285del1
c.853_855delGAG
1 paper
NM_005739.4
p.R271*
c.811C>T
1 paper
NM_005739.4
p.S264R
c.792C>G
1 paper
NM_005739.4
p.S264R
c.792C>A
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