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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WFDC1

Variant:p.G9D

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr16:84294997 G>A

NM_021197.4

p.G9D

c.26G>A

exact variant not in gnomAD19 overlapping SVs

Surrounding Variants

1 paper

chr16:84294988 T>A

NM_021197.4

p.V6E

c.17T>A

exact variant not in gnomAD19 overlapping SVs

1 paper

chr16:84295015 T>A

NM_021197.4

p.I15N

c.44T>A

exact variant not in gnomAD19 overlapping SVs

1 paper

chr16:84295055 C>T

NM_021197.4

p.A28A

c.84C>T

Exome: 0.0% (AC=22, hom=1)Genome: 0.0% (AC=3, hom=0)19 overlapping SVs

1 paper

chr16:84295105 A>C

NM_021197.4

p.E45A

c.134A>C

exact variant not in gnomAD19 overlapping SVs

1 paper

chr16:84295105 A>G

NM_021197.4

p.E45G

c.134A>G

Exome: n/aGenome: 0.0% (AC=1, hom=0)19 overlapping SVs

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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."