Varaico: Literature-Extracted Genetic Variants

WFIKKN1

27 papers

RefSeq Summary

This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domai...

Pfam Domains

WAPaa 29–78UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

Ig_3aa 185–267UCSCImmunoglobulin domain

Kunitz_BPTIaa 299–352UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Kunitz_BPTIaa 358–410UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Gene Aliases

HGNC Name

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1

HGNC Previous Symbol

C16orf12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_053284.3

p.W42C

c.126G>C

Surrounding Variants

1 paper

NM_053284.3

p.W42C

c.126G>T

1 paper

NM_053284.3

p.S54T

c.161G>C

1 paper

NM_053284.3

p.F96C

c.287T>G

2 papers

NM_053284.3

p.G110R

c.328G>A

2 papers

NM_053284.3

p.G110R

c.328G>C

1 paper

NM_053284.3

p.L133P

c.398T>C

1 paper

NM_053284.3

p.A196V

c.587C>T

1 paper

NM_053284.3

p.A203S

c.607G>T

1 paper

NM_053284.3

p.R212R

c.636C>G

1 paper

NM_053284.3

p.R226Q

c.677G>A

1 paper

NM_053284.3

p.I230V

c.688A>G

1 paper

NM_053284.3

p.M236I

c.708G>A