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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WFDC11

Variant:p.M1V

WFDC11

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...

Gene Aliases

HGNC Name

WAP four-disulfide core domain 11

HGNC Alias Symbol

WAP11

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr20:45650600 T>C

NM_147197.2

p.M1V

c.1A>G

Exome: 0.0% (AC=203, hom=4)Genome: 0.0% (AC=7, hom=0)11 overlapping SVs

Surrounding Variants

1 paper

chr20:45650548 G>A

NM_147197.2

p.T18M

c.53C>T

Exome: 0.2% (AC=2463, hom=14)Genome: 0.2% (AC=234, hom=0)11 overlapping SVs

1 paper

chr20:45650500 C>T

NM_147197.2

p.R34Splc

c.100+1G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr20:45649373 A>G

NM_147197.2

p.W43R

c.127T>C

Exome: 0.0% (AC=75, hom=0)Genome: 0.0% (AC=3, hom=0)11 overlapping SVs

1 paper

chr20:45649373 A>T

NM_147197.2

p.W43R

c.127T>A

exact variant not in gnomAD11 overlapping SVs

1 paper

chr20:45649336 C>A

NM_147197.2

p.C55F

c.164G>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a11 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."