Varaico: Literature-Extracted Genetic Variants

WFDC2

17 papers

RefSeq Summary

This gene encodes a protein that is a member of the WFDC domain family. The WFDC domain, or WAP Signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and f...

Pfam Domains

WAPaa 32–73UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

WAPaa 76–122UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

Gene Aliases

HGNC Name

WAP four-disulfide core domain 2

HGNC Alias Symbols

HE4; WAP5; dJ461P17.6; EDDM4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006103.4

p.G27A

c.80G>C

Surrounding Variants

1 paper

NM_006103.4

p.T23fs

c.67_68fs

1 paper

NM_006103.4

p.R5H

c.14G>A

1 paper

NM_006103.4

p.R5S

c.13C>A

2 papers

NM_006103.4

p.M1K

c.2T>A

1 paper

NM_006103.4

p.G29*

c.85G>T

1 paper

NM_006103.4

p.C36fs

c.106_107fs

1 paper

NM_006103.4

p.C36delFs

c.108delC

5 papers

NM_006103.4

p.C49R

c.145T>C