Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WFDC10A

WFDC10A

6 papers

RefSeq Summary

This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the p...

Pfam Domains

WAPaa 37–78UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

Gene Aliases

HGNC Name

WAP four-disulfide core domain 10A

HGNC Previous Symbol

C20orf146

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr20:45629836 C>T

NM_080753.3

p.P8L

c.23C>T

Exome: 0.0% (AC=8, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr20:45629880 T>C

NM_080753.3

p.Y23H

c.67T>C

exact variant not in gnomAD13 overlapping SVs

1 paper

chr20:45630910 G>A

NM_080753.3

p.Q44Q

c.132G>A

WAP

Exome: 16.8% (AC=244718, hom=22184)Genome: 17.5% (AC=26521, hom=2485)13 overlapping SVs

1 paper

chr20:45630941 G>T

NM_080753.3

p.E55*

c.163G>T

WAP

exact variant not in gnomAD13 overlapping SVs

1 paper

chr20:45630943 A>C

NM_080753.3

p.E55D

c.165A>C

WAP

Exome: n/aGenome: 0.0% (AC=1, hom=0)13 overlapping SVs

1 paper

chr20:45630943 A>T

NM_080753.3

p.E55D

c.165A>T

WAP

exact variant not in gnomAD13 overlapping SVs

1 paper

chr20:45630981 C>A

NM_080753.3

p.S68Y

c.203C>A

WAP

Exome: 0.0% (AC=0, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr20:45631013 C>A

NM_080753.3

p.L79M

c.235C>A

exact variant not in gnomAD13 overlapping SVs

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."