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

1 paper

NM_003064.4

p.N80insFs

c.238_239insG

Surrounding Variants

1 paper

NM_003064.4

p.P79_N80insFs

c.237_238insG

1 paper

NM_003064.4

p.P81_T82insFs

c.243_244insC

1 paper

NM_003064.4

p.D77E

c.231C>G

1 paper

NM_003064.4

p.P75_V76delFs

c.224_227del4

1 paper

NM_003064.4

p.D74G

c.221A>G

1 paper

NM_003064.4

p.D74A

c.221A>C

1 paper

NM_003064.4

p.L73_D74insFs

c.219_220insAA

1 paper

NM_003064.4

p.G69G

c.207C>A

1 paper

NM_003064.4

p.G69D

c.206G>A

1 paper

NM_003064.4

p.C68F

c.203G>T

1 paper

NM_003064.4

p.C68S

c.202T>A

1 paper

NM_003064.4

p.D66A

c.197A>C