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.Y93S

c.278A>C

Surrounding Variants

1 paper

NM_003064.4

p.Y93C

c.278A>G

1 paper

NM_003064.4

p.Y93H

c.277T>C

1 paper

NM_003064.4

p.P90S

c.268C>T

2 papers

NM_003064.4

p.C89Y

c.266G>A

1 paper

NM_003064.4

p.C89_P90insCAG

c.265_269ins9

1 paper

NM_003064.4

p.C89R

c.265T>C

1 paper

NM_003064.4

p.M98T

c.293T>C

1 paper

NM_003064.4

p.K88R

c.263A>G

1 paper

NM_003064.4

p.P86S

c.256C>T

1 paper

NM_003064.4

p.C96_P101del0

c.287_301del15

1 paper

NM_003064.4

p.K85*

c.253A>T

2 papers

NM_003064.4

p.P102S

c.304C>T