Varaico: Literature-Extracted Genetic Variants

WFIKKN2

43 papers

RefSeq Summary

The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domai...

Pfam Domains

WAPaa 42–91UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

I-setaa 117–211UCSCImmunoglobulin I-set domain

Kunitz_BPTIaa 234–286UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Kunitz_BPTIaa 292–344UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

NTRaa 363–469UCSCUNC-6/NTR/C345C module

Gene Aliases

HGNC Name

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2

HGNC Alias Symbols

WFIKKNRP; WFDC20B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_175575.6

p.R468*

c.1402C>T

Surrounding Variants

1 paper

NM_175575.6

p.E474V

c.1421A>T

1 paper

NM_175575.6

p.S435S

c.1305G>A

1 paper

NM_175575.6

p.Q501H

c.1503G>C

1 paper

NM_175575.6

p.Q501H

c.1503G>T

1 paper

NM_175575.6

p.E434*

c.1300G>T

1 paper

NM_175575.6

p.F426L

c.1278T>A

1 paper

NM_175575.6

p.F426L

c.1278T>G

1 paper

NM_175575.6

p.F426L

c.1276T>C

1 paper

NM_175575.6

p.P516_C517delFs

c.1546_1549del4

1 paper

NM_175575.6

p.P516fs

c.1546_1547fs

1 paper

NM_175575.6

p.C517_E524del0

c.1551_1571del21

1 paper

NM_175575.6

p.T408T

c.1224G>T