Varaico: Literature-Extracted Genetic Variants

Gene:WIPF1
Variant:p.P346L

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.P346L
c.1037C>T
Surrounding Variants
1 paper
NM_001375834.1
p.T345T
c.1035G>T
1 paper
NM_001375834.1
p.P347Q
c.1040C>A
1 paper
NM_001375834.1
p.P347fs
c.1039_1040fs
1 paper
NM_001375834.1
p.S344F
c.1031C>T
1 paper
NM_001375834.1
p.S344P
c.1030T>C
1 paper
NM_001375834.1
p.S343L
c.1028C>T
1 paper
NM_001375834.1
p.S350S
c.1050G>A
1 paper
NM_001375834.1
p.L341P
c.1022T>C
1 paper
NM_001375834.1
p.S340delFs
c.1019delG
1 paper
NM_001375834.1
p.P347_P351delFs
c.1040_1052del13
1 paper
NM_001375834.1
p.R353H
c.1058G>A
1 paper
NM_001375834.1
p.S354L
c.1061C>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."