Varaico: Literature-Extracted Genetic Variants

Gene:WIPF1
Variant:p.A18D

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.A18D
c.53C>A
Surrounding Variants
1 paper
NM_001375834.1
p.A18S
c.52G>T
2 papers
NM_001375834.1
p.N19S
c.56A>G
1 paper
NM_001375834.1
p.E21D
c.63G>T
1 paper
NM_001375834.1
p.E21D
c.63G>C
1 paper
NM_001375834.1
p.N26D
c.76A>G
1 paper
NM_001375834.1
p.A35T
c.103G>A
1 paper
NM_001375834.1
p.L37F
c.109C>T
1 paper
NM_001375834.1
p.G43W
c.127G>T
3 papers
NM_001375834.1
p.K45I
c.134A>T
1 paper
NM_001375834.1
p.L46Q
c.137T>A
2 papers
NM_001375834.1
p.T49M
c.146C>T
1 paper
NM_001375834.1
p.S55S
c.165T>C
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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."