Varaico: Literature-Extracted Genetic Variants

Gene:WIPF1
Variant:p.R125*

WIPF1

159 papers

RefSeq Summary

This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mut...

Pfam Domains

WH2aa 29–56UCSCWH2 motif

Gene Aliases

HGNC Name

WAS/WASL interacting protein family member 1

HGNC Previous Symbol

WASPIP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001375834.1
p.R125*
c.373C>T
Surrounding Variants
1 paper
NM_001375834.1
p.P126R
c.377C>G
1 paper
NM_001375834.1
p.G132R
c.394G>C
1 paper
NM_001375834.1
p.G132R
c.394G>A
1 paper
NM_001375834.1
p.G132ins2
c.395_396ins6
1 paper
NM_001375834.1
p.R134K
c.401G>A
1 paper
NM_001375834.1
p.A138V
c.413C>T
1 paper
NM_001375834.1
p.A138A
c.414G>A
1 paper
NM_001375834.1
p.P144fs
c.430_431fs
1 paper
NM_001375834.1
p.V152G
c.455T>G
1 paper
NM_001375834.1
p.R158K
c.473G>A
1 paper
NM_001375834.1
p.P162ins1
c.484_485insCTC
1 paper
NM_001375834.1
p.R168Q
c.503G>A
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