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.Y78delFs

c.233_234delAC

Surrounding Variants

4 papers

NM_021102.4

p.E83*

c.247G>T

1 paper

NM_021102.4

p.K86N

c.258G>C

1 paper

NM_021102.4

p.K86N

c.258G>T

1 paper

NM_021102.4

p.Y68S

c.203A>C

2 papers

NM_021102.4

p.Y68C

c.203A>G

1 paper

NM_021102.4

p.Q64R

c.191A>G

1 paper

NM_021102.4

p.E93Splc

c.277+1G>A

1 paper

NM_021102.4

p.G61R

c.181G>A

1 paper

NM_021102.4

p.G61R

c.181G>C

1 paper

NM_021102.4

p.V58fs

c.172_173fs

4 papers

NM_021102.4

p.V58insFs

c.172dupG

1 paper

NM_021102.4

p.N57fs

c.169_170fs