Varaico: Literature-Extracted Genetic Variants

SPINT1

61 papers

RefSeq Summary

The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regul...

Pfam Domains

MANECaa 48–139UCSCMANEC domain

K319L-like_PKDaa 167–240UCSCK319L-like, PKD domain

Kunitz_BPTIaa 249–301UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Ldl_recept_aaa 333–369UCSCLow-density lipoprotein receptor domain class A

Kunitz_BPTIaa 390–442UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Gene Aliases

HGNC Name

serine peptidase inhibitor, Kunitz type 1

HGNC Alias Symbols

HAI; HAI-1; MANSC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003710.4

p.Q221H

c.663G>C

Surrounding Variants

1 paper

NM_003710.4

p.L219R

c.656T>G

1 paper

NM_003710.4

p.S227L

c.680C>T

1 paper

NM_003710.4

p.N235N

c.705C>T

1 paper

NM_003710.4

p.T239delFs

c.715_716delAC

1 paper

NM_003710.4

p.K203Q

c.607A>C

1 paper

NM_003710.4

p.S242A

c.724T>G

1 paper

NM_003710.4

p.K244T

c.731A>C

1 paper

NM_003710.4

p.R260Q

c.779G>A

1 paper

NM_003710.4

p.R260L

c.779G>T

1 paper

NM_003710.4

p.I274I

c.822C>T

1 paper

NM_003710.4

p.T196M

c.587C>T

1 paper

NM_003710.4

p.Q304R

c.911A>G