Varaico: Literature-Extracted Genetic Variants

WFDC8

15 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 47–90UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

Kunitz_BPTIaa 94–146UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

WAPaa 150–193UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

WAPaa 197–239UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

Gene Aliases

HGNC Name

WAP four-disulfide core domain 8

HGNC Previous Symbol

C20orf170

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_130896.3

p.F80del1

c.238_239delAAA

Surrounding Variants

1 paper

NM_130896.3

p.E93K

c.277G>A

2 papers

NM_130896.3

p.M96T

c.287T>C

2 papers

NM_130896.3

p.N137S

c.410A>G

1 paper

NM_130896.3

p.N137T

c.410A>C

1 paper

NM_130896.3

p.K45T

c.134A>C

1 paper

NM_130896.3

p.S15N

c.44G>A

1 paper

NM_130896.3

p.V189F

c.565G>T

1 paper

NM_130896.3

p.D219Y

c.655G>T

1 paper

NM_130896.3

p.G233E

c.698G>A

1 paper

NM_130896.3

p.R241C

c.721C>T