Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF1
Variant:p.M190L

RAPGEF1

118 papers

RefSeq Summary

This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signali...

Pfam Domains

RasGEF_Naa 691–788UCSCRasGEF N-terminal motif
RasGEFaa 843–1013UCSCRasGEF domain

Gene Aliases

HGNC Name

Rap guanine nucleotide exchange factor 1

HGNC Previous Symbol

GRF2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001377935.1
p.M190L
c.568A>C
Surrounding Variants
1 paper
NM_001377935.1
p.M190I
c.570G>T
1 paper
NM_001377935.1
p.Q177L
c.530A>T
1 paper
NM_001377935.1
p.T203M
c.608C>T
1 paper
NM_001377935.1
p.Y172F
c.515A>T
1 paper
NM_001377935.1
p.K217N
c.651G>C
1 paper
NM_001377935.1
p.H164L
c.491A>T
2 papers
NM_198679.2
p.M141I
c.423G>T
2 papers
NM_198679.2
p.M141I
c.423G>C
2 papers
NM_198679.2
p.M141I
c.423G>A
1 paper
NM_001377935.1
p.L138L
c.414G>T
1 paper
NM_001377935.1
p.L138L
c.412C>T
2 papers
NM_001377935.1
p.K136T
c.407A>C
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