Varaico: Literature-Extracted Genetic Variants

Gene:RAPH1
Variant:p.S531R

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
Selected Variant
1 paper
NM_213589.3
p.S531R
c.1591A>C
Surrounding Variants
1 paper
NM_213589.3
p.S531R
c.1593C>G
1 paper
NM_213589.3
p.S531R
c.1593C>A
1 paper
NM_213589.3
p.T492I
c.1475C>T
1 paper
NM_213589.3
p.E545D
c.1635G>T
1 paper
NM_213589.3
p.E545D
c.1635G>C
1 paper
NM_213589.3
p.Q553*
c.1657C>T
2 papers
NM_213589.3
p.G557R
c.1669G>C
2 papers
NM_213589.3
p.G557R
c.1669G>A
1 paper
NM_213589.3
p.A564S
c.1690G>T
1 paper
NM_213589.3
p.V567A
c.1700T>C
1 paper
NM_213589.3
p.V576I
c.1726G>A
1 paper
NM_213589.3
p.R600Q
c.1799G>A
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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."