Varaico: Literature-Extracted Genetic Variants

Gene:WIPF1
Variant:p.S247Y

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
1 paper
NM_001375834.1
p.S247Y
c.740C>A
Surrounding Variants
1 paper
NM_001375834.1
p.F246_S247insFs
c.738_739insTG
1 paper
NM_001375834.1
p.R249Q
c.746G>A
1 paper
NM_001375834.1
p.T255I
c.764C>T
1 paper
NM_001375834.1
p.S238P
c.712T>C
1 paper
NM_001375834.1
p.Q237*
c.709C>T
1 paper
NM_001375834.1
p.S234A
c.700T>G
1 paper
NM_001375834.1
p.G233V
c.698G>T
1 paper
NM_001375834.1
p.G232R
c.694G>A
1 paper
NM_001375834.1
p.P265L
c.794C>T
2 papers
NM_001375834.1
p.G216R
c.646G>C
2 papers
NM_001375834.1
p.G216R
c.646G>A
1 paper
NM_001375834.1
p.P284S
c.850C>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."