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

3 papers

NM_003710.4

p.C121S

c.362G>C

Surrounding Variants

3 papers

NM_003710.4

p.C121S

c.361T>A

1 paper

NM_003710.4

p.Y123C

c.368A>G

1 paper

NM_003710.4

p.F127C

c.380T>G

1 paper

NM_003710.4

p.D111D

c.333C>T

2 papers

NM_003710.4

p.T142R

c.425C>G

1 paper

NM_003710.4

p.Y149*

c.447C>G

1 paper

NM_003710.4

p.R89C

c.265C>T

1 paper

NM_003710.4

p.R83_V88del6

c.247_263del18

1 paper

NM_003710.4

p.T55I

c.164C>T

1 paper

NM_003710.4

p.A46G

c.137C>G

1 paper

NM_003710.4

p.A35A

c.105C>T

1 paper

NM_003710.4

p.L28_L30del0

c.83_88del6