Varaico: Literature-Extracted Genetic Variants

Gene:RAPH1
Variant:p.R416C

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.R416C
c.1246C>T
Surrounding Variants
1 paper
NM_213589.3
p.D408G
c.1223A>G
1 paper
NM_213589.3
p.D407G
c.1220A>G
1 paper
NM_213589.3
p.F389F
c.1167T>C
1 paper
NM_213589.3
p.K371R
c.1112A>G
1 paper
NM_213589.3
p.K370E
c.1108A>G
1 paper
NM_213589.3
p.F360delFs
c.1080delG
1 paper
NM_213589.3
p.L359V
c.1075C>G
1 paper
NM_213589.3
p.A358T
c.1072G>A
1 paper
NM_213589.3
p.G307C
c.919G>T
1 paper
NM_213589.3
p.G307S
c.919G>A
1 paper
NM_213589.3
p.C306Fs
c.917delinsCAFs
1 paper
NM_213589.3
p.A259S
c.775G>T
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