Varaico: Literature-Extracted Genetic Variants

WFDC3

12 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 29–68UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

WAPaa 72–113UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

WAPaa 123–160UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

WAPaa 166–206UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

Gene Aliases

HGNC Name

WAP four-disulfide core domain 3

HGNC Alias Symbols

dJ447F3.3; WAP14

Papers

RefSeq ID

Protein change

DNA change

3 papers

NM_080614.2

p.H36D

c.106C>G

1 paper

NM_080614.2

p.L18M

c.52C>A

1 paper

NM_080614.2

p.C40F

c.119G>T

1 paper

NM_080614.2

p.G60V

c.179G>T

1 paper

NM_080614.2

p.R63L

c.188G>T

1 paper

NM_080614.2

p.C89R

c.265T>C

1 paper

NM_080614.2

p.R166W

c.496C>T