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.M1R

c.2T>G

Surrounding Variants

1 paper

NM_003064.4

p.M1T

c.2T>C

1 paper

NM_003064.4

p.M1I

c.3G>T

1 paper

NM_003064.4

p.M1insFs

c.2_3insT

1 paper

NM_003064.4

p.M1I

c.3G>C

1 paper

NM_003064.4

p.M1I

c.3G>A

1 paper

NM_003064.4

p.M1L

c.1A>T

1 paper

NM_003064.4

p.M1L

c.1A>C

1 paper

NM_003064.4

p.K2Q

c.4A>C

1 paper

NM_003064.4

p.M1delFs

c.3delC

2 papers

NM_003064.4

p.S4R

c.10A>C

1 paper

NM_003064.4

p.S4R

c.12C>G

1 paper

NM_003064.4

p.S4R

c.12C>A