Varaico: Literature-Extracted Genetic Variants

SLPI

300 papers

RefSeq Summary

This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, an...

Pfam Domains

WAPaa 31–75UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

WAPaa 85–129UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

Gene Aliases

HGNC Name

secretory leukocyte peptidase inhibitor

HGNC Alias Symbols

HUSI-I; ALK1; ALP; BLPI; HUSI; WAP4; WFDC4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003064.4

p.R62G

c.184A>G

Surrounding Variants

1 paper

NM_003064.4

p.K61*

c.181A>T

1 paper

NM_003064.4

p.K60M

c.179A>T

1 paper

NM_003064.4

p.G59E

c.176G>A

1 paper

NM_003064.4

p.D66A

c.197A>C

1 paper

NM_003064.4

p.C57F

c.170G>T

4 papers

NM_003064.4

p.Q56insFs

c.166_167insC

1 paper

NM_003064.4

p.C68S

c.202T>A

1 paper

NM_003064.4

p.Q56*

c.166C>T

1 paper

NM_003064.4

p.C68F

c.203G>T

1 paper

NM_003064.4

p.G69D

c.206G>A

1 paper

NM_003064.4

p.D54E

c.162C>G

1 paper

NM_003064.4

p.D54E

c.162C>A