Varaico: Literature-Extracted Genetic Variants

Gene:WFDC1
Variant:p.T147M

WFDC1

23 papers

RefSeq Summary

This gene encodes a member of the WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain contains eight cysteines forming four disulfide bonds at the core of the protein, ...

Pfam Domains

WAPaa 62–107UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

Gene Aliases

HGNC Name

WAP four-disulfide core domain 1

HGNC Alias Symbol

PS20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021197.4
p.T147M
c.440C>T
Surrounding Variants
1 paper
NM_021197.4
p.A143A
c.429G>A
1 paper
NM_021197.4
p.E142E
c.426G>A
1 paper
NM_021197.4
p.E152K
c.454G>A
2 papers
NM_021197.4
p.P167T
c.499C>A
1 paper
NM_021197.4
p.V138M
c.412G>A
1 paper
NM_021197.4
p.V118G
c.353T>G
1 paper
NM_021197.4
p.G189E
c.566G>A
1 paper
NM_021197.4
p.G189V
c.566G>T
1 paper
NM_021197.4
p.R190Q
c.569G>A
1 paper
NM_021197.4
p.A107_V108insFs
c.321_322insC
1 paper
NM_021197.4
p.R91W
c.271C>T
1 paper
NM_021197.4
p.L73V
c.217C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."