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

7 papers

NM_021102.4

p.R148C

c.442C>T

Surrounding Variants

3 papers

NM_021102.4

p.R148H

c.443G>A

1 paper

NM_021102.4

p.P147L

c.440C>T

1 paper

NM_021102.4

p.W149*

c.446G>A

2 papers

NM_021102.4

p.W149*

c.447G>A

2 papers

NM_021102.4

p.F146Y

c.437T>A

4 papers

NM_021102.4

p.R143L

c.428G>T

1 paper

NM_021102.4

p.N156delFs

c.467delA

1 paper

NM_021102.4

p.C158R

c.472T>C

5 papers

NM_021102.4

p.F161V

c.481T>G

1 paper

NM_021102.4

p.F161C

c.482T>G

1 paper

NM_021102.4

p.Y163S

c.488A>C

26 papers

NM_021102.4

p.Y163C

c.488A>G