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.P490R

c.1469C>G

Surrounding Variants

1 paper

NM_003710.4

p.S493C

c.1478C>G

1 paper

NM_003710.4

p.R476insFs

c.1427_1428insAA

1 paper

NM_003710.4

p.R476fs

c.1426_1427fs

1 paper

NM_003710.4

p.I458I

c.1374C>A

2 papers

NM_003710.4

p.A453T

c.1357G>A

2 papers

NM_003710.4

p.G427S

c.1279G>A

1 paper

NM_181642.3

p.R418H

c.1253G>A

1 paper

NM_003710.4

p.K385R

c.1154A>G

1 paper

NM_003710.4

p.K385E

c.1153A>G

2 papers

NM_003710.4

p.D349Y

c.1045G>T

1 paper

NM_003710.4

p.S316F

c.947C>T

1 paper

NM_003710.4

p.Q304R

c.911A>G