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.S237insFs

c.710_711insCA

Surrounding Variants

1 paper

NM_021102.4

p.S237fs

c.709_710fs

1 paper

NM_021102.4

p.D240H

c.718G>C

2 papers

NM_021102.4

p.R233H

c.698G>A

1 paper

NM_021102.4

p.R233_T234del2

c.697_701del6

1 paper

NM_021102.4

p.R230H

c.689G>A

1 paper

NM_021102.4

p.A215A

c.645C>A

8 papers

NM_021102.4

p.V200L

c.598G>C

7 papers

NM_021102.4

p.V198Splc

c.593-1G>A

8 papers

NM_021102.4

p.R185Splc

c.553+2T>A

1 paper

NM_021102.4

p.R185Splc

c.553+1G>T

1 paper

NM_021102.4

p.M180insFs

c.539_540insCA

7 papers

NM_021102.4

p.G168S

c.502G>A