Varaico: Literature-Extracted Genetic Variants

Gene:WIPF1
Variant:p.S434*

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
5 papers
NM_001375834.1
p.S434*
c.1301C>G
Surrounding Variants
4 papers
NM_001375834.1
p.S434*
c.1301C>A
2 papers
NM_001375834.1
p.P432L
c.1295C>T
1 paper
NM_001375834.1
p.P399L
c.1196C>T
1 paper
NM_001375834.1
p.G389C
c.1165G>T
1 paper
NM_001375834.1
p.N388H
c.1162A>C
1 paper
NM_001375834.1
p.P384Q
c.1151C>A
1 paper
NM_001375834.1
p.D448Splc
c.1343-1G>A
1 paper
NM_001375834.1
p.E449G
c.1346A>G
1 paper
NM_001375834.1
p.W450S
c.1349G>C
1 paper
NM_001375834.1
p.E451G
c.1352A>G
1 paper
NM_001375834.1
p.E451A
c.1352A>C
1 paper
NM_001375834.1
p.Y455F
c.1364A>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."