Varaico: Literature-Extracted Genetic Variants

Gene:WFDC1

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
1–12 of 27 variants
3 papers
NM_021197.4
p.K217R
c.650A>G
2 papers
NM_021197.4
p.P167T
c.499C>A
1 paper
NM_021197.4
p.V6E
c.17T>A
1 paper
NM_021197.4
p.G9D
c.26G>A
1 paper
NM_021197.4
p.I15N
c.44T>A
1 paper
NM_021197.4
p.A28A
c.84C>T
1 paper
NM_021197.4
p.E45A
c.134A>C
1 paper
NM_021197.4
p.E45G
c.134A>G
1 paper
NM_021197.4
p.P61T
c.181C>A
1 paper
NM_021197.4
p.P68Q
c.203C>A
1 paper
NM_021197.4
p.L73V
c.217C>G
1 paper
NM_021197.4
p.R91W
c.271C>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."