Varaico: Literature-Extracted Genetic Variants

Gene:WFDC1
Variant:p.G212R

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.G212R
c.634G>A
Surrounding Variants
1 paper
NM_021197.4
p.G212R
c.634G>C
1 paper
NM_021197.4
p.P211S
c.631C>T
3 papers
NM_021197.4
p.K217R
c.650A>G
1 paper
NM_021197.4
p.K217_H218delFs
c.651_652delGC
1 paper
NM_021197.4
p.S205T
c.613T>A
1 paper
NM_021197.4
p.R190Q
c.569G>A
1 paper
NM_021197.4
p.G189E
c.566G>A
1 paper
NM_021197.4
p.G189V
c.566G>T
2 papers
NM_021197.4
p.P167T
c.499C>A
1 paper
NM_021197.4
p.E152K
c.454G>A
1 paper
NM_021197.4
p.T147M
c.440C>T
1 paper
NM_021197.4
p.A143A
c.429G>A
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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."