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.S29Splc

c.85+1G>T

Surrounding Variants

1 paper

NM_003064.4

p.K28insFs

c.84dupG

1 paper

NM_003064.4

p.K28_S29insFs

c.84_85insGG

1 paper

NM_003064.4

p.E24G

c.71A>G

1 paper

NM_003064.4

p.E24K

c.70G>A

1 paper

NM_003064.4

p.A22D

c.65C>A

1 paper

NM_003064.4

p.P20L

c.59C>T

1 paper

NM_003064.4

p.A19G

c.56C>G

1 paper

NM_003064.4

p.L18L

c.54G>A

1 paper

NM_003064.4

p.L18M

c.52C>A

1 paper

NM_003064.4

p.T17T

c.51T>C

1 paper

NM_003064.4

p.T17N

c.50C>A

1 paper

NM_003064.4

p.A14G

c.41C>G