Varaico: Literature-Extracted Genetic Variants

SPINK2

25 papers

RefSeq Summary

This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in t...

Pfam Domains

Kazal_1aa 36–84UCSCKazal-type serine protease inhibitor domain

Gene Aliases

HGNC Name

serine peptidase inhibitor Kazal type 2

HGNC Alias Symbol

HUSI-II

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001271718.2

p.T40A

c.118A>G

Surrounding Variants

3 papers

NM_001271718.2

p.G37E

c.110G>A

1 paper

NM_001271718.2

p.G35insFs

c.103dupG

1 paper

NM_001271718.2

p.C45_P46delFs

c.135_136delGG

1 paper

NM_001271718.2

p.R28insFs

c.82dupC

1 paper

NM_001271718.2

p.G24D

c.71G>A

1 paper

NM_001271718.2

p.G62D

c.185G>A

1 paper

NM_001271718.2

p.L8insFs

c.23dupT

1 paper

NM_001271718.2

p.M1L

c.1A>T

1 paper

NM_001271718.2

p.A69Splc

c.206-76A>T

2 papers

NM_021114.4

p.A19Splc

c.56-3C>G

NM_001271718.2

p.A69Splc

c.206-3C>G

1 paper

NM_001271718.2

p.A69fs

c.205_206fs

1 paper

NM_001271718.2

p.Y81F

c.242A>T