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.F30I

c.88T>A

Surrounding Variants

1 paper

NM_003064.4

p.F30delFs

c.89delA

1 paper

NM_003064.4

p.A32V

c.95C>T

3 papers

NM_003064.4

p.G33G

c.99A>T

1 paper

NM_003064.4

p.V34I

c.100G>A

1 paper

NM_003064.4

p.V34V

c.102C>A

1 paper

NM_003064.4

p.C35S

c.103T>A

1 paper

NM_003064.4

p.C35S

c.104G>C

1 paper

NM_003064.4

p.P36A

c.106C>G

1 paper

NM_003064.4

p.P37R

c.110C>G

1 paper

NM_003064.4

p.P37delFs

c.111delA

1 paper

NM_003064.4

p.K39I

c.116A>T

1 paper

NM_003064.4

p.K39insFs

c.116_117insC