Varaico: Literature-Extracted Genetic Variants

Gene:RAPH1

RAPH1

81 papers

RefSeq Summary

This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain plecks...

Pfam Domains

RA_2aa 269–355UCSCRA like domain
PHaa 397–505UCSCPH domain

Gene Aliases

HGNC Name

Ras association (RalGDS/AF-6) and pleckstrin homology domains 1

HGNC Previous Symbols

ALS2CR9; ALS2CR18

Papers
RefSeq ID
Protein change
DNA change
1–12 of 96 variants
2 papers
NM_213589.3
p.E244K
c.730G>A
2 papers
NM_213589.3
p.G557R
c.1669G>C
2 papers
NM_213589.3
p.G557R
c.1669G>A
2 papers
NM_213589.3
p.T1228A
c.3682A>G
1 paper
NM_213589.3
p.M1L
c.1A>C
1 paper
NM_213589.3
p.G12V
c.35G>T
1 paper
NM_213589.3
p.S17R
c.49A>C
1 paper
NM_213589.3
p.S17R
c.51T>G
1 paper
NM_213589.3
p.S17R
c.51T>A
1 paper
NM_213589.3
p.D25G
c.74A>G
1 paper
NM_213589.3
p.T39fs
c.115_116fs
1 paper
NM_213589.3
p.Q40H
c.120G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."