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

1–12 of 126 variants

5 papers

NM_003064.4

p.C51Y

c.152G>A

4 papers

NM_003064.4

p.Q56insFs

c.166_167insC

3 papers

NM_003064.4

p.G33G

c.99A>T

3 papers

NM_003064.4

p.E50D

c.150G>T

3 papers

NM_003064.4

p.C118W

c.354C>G

2 papers

NM_003064.4

p.M1R

c.2T>G

2 papers

NM_003064.4

p.S4R

c.10A>C

2 papers

NM_003064.4

p.L10L

c.28C>T

2 papers

NM_003064.4

p.L13delFs

c.37delG

2 papers

NM_003064.4

p.P49insFs

c.145_146insG

2 papers

NM_003064.4

p.D54A

c.161A>C

2 papers

NM_003064.4

p.R62G

c.184A>G