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.G109G

c.327C>T

Surrounding Variants

1 paper

NM_003064.4

p.M107R

c.320T>G

1 paper

NM_003064.4

p.K112fs

c.334_335fs

1 paper

NM_003064.4

p.C105W

c.315T>G

1 paper

NM_003064.4

p.D114N

c.340G>A

1 paper

NM_003064.4

p.N103S

c.308A>G

2 papers

NM_003064.4

p.P101_N103delFs

c.301_307del7

1 paper

NM_003064.4

p.P102delFs

c.306delG

1 paper

NM_003064.4

p.P102L

c.305C>T

1 paper

NM_003064.4

p.C117Y

c.350G>A

2 papers

NM_003064.4

p.P102S

c.304C>T

1 paper

NM_003064.4

p.C117*

c.351T>A

1 paper

NM_003064.4

p.C118S

c.352T>A