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

1–12 of 82 variants

26 papers

NM_021102.4

p.Y163C

c.488A>G

8 papers

NM_021102.4

p.M1L

c.1A>T

8 papers

NM_021102.4

p.A113Splc

c.337+2T>C

8 papers

NM_021102.4

p.R185Splc

c.553+2T>A

8 papers

NM_021102.4

p.V200L

c.598G>C

7 papers

NM_021102.4

p.R148C

c.442C>T

7 papers

NM_021102.4

p.G168S

c.502G>A

7 papers

NM_021102.4

p.V198Splc

c.593-1G>A

5 papers

NM_021102.4

p.F161V

c.481T>G

4 papers

NM_021102.4

p.M1T

c.2T>C

4 papers

NM_021102.4

p.Y56insFs

c.166_167dupTA

4 papers

NM_021102.4

p.V58insFs

c.172dupG