Varaico: Literature-Extracted Genetic Variants

SPINT2

65 papers

RefSeq Summary

This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active h...

Pfam Domains

Kunitz_BPTIaa 37–89UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Kunitz_BPTIaa 132–184UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Gene Aliases

HGNC Name

serine peptidase inhibitor, Kunitz type 2

HGNC Alias Symbols

Kop; HAI-2; HAI2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021102.4

p.D125H

c.373G>C

Surrounding Variants

1 paper

NM_021102.4

p.D125N

c.373G>A

1 paper

NM_021102.4

p.D125insFs

c.373_374insC

1 paper

NM_021102.4

p.Y129C

c.386A>G

2 papers

NM_021102.4

p.E120V

c.359A>T

1 paper

NM_021102.4

p.D118insFs

c.352_353ins4

2 papers

NM_021102.4

p.D118_S123delFs

c.352_368del17

1 paper

NM_021102.4

p.R115fs

c.343_344fs

1 paper

NM_021102.4

p.E131Splc

c.391+26G>A

1 paper

NM_021102.4

p.E131Splc

c.392-2A>G

4 papers

NM_021102.4

p.R143L

c.428G>T

2 papers

NM_021102.4

p.F146Y

c.437T>A

1 paper

NM_021102.4

p.P147L

c.440C>T