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

4 papers

NM_021102.4

p.M1T

c.2T>C

Surrounding Variants

1 paper

NM_021102.4

p.M1K

c.2T>A

1 paper

NM_021102.4

p.M1L

c.1A>C

8 papers

NM_021102.4

p.M1L

c.1A>T

1 paper

NM_021102.4

p.M1_L16delFs

c.1_46del46

1 paper

NM_021102.4

p.Q3H

c.9G>C

1 paper

NM_021102.4

p.Q3H

c.9G>T

1 paper

NM_021102.4

p.F13_L21insFs

c.38_62dup25

1 paper

NM_021102.4

p.A15T

c.43G>A

2 papers

NM_021102.4

p.L16_S23del0

c.48_68del21

1 paper

NM_021102.4

p.L20delFs

c.60delG

1 paper

NM_021102.4

p.L26Q

c.77T>A

1 paper

NM_021102.4

p.A27T

c.79G>A