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.Y46C

c.137A>G

Surrounding Variants

1 paper

NM_003064.4

p.Y46*

c.138C>A

1 paper

NM_003064.4

p.K47Q

c.139A>C

1 paper

NM_003064.4

p.K47insFs

c.139_140insG

1 paper

NM_003064.4

p.K48E

c.142A>G

1 paper

NM_003064.4

p.K48_P49insFs

c.144_145insG

2 papers

NM_003064.4

p.P49insFs

c.145_146insG

1 paper

NM_003064.4

p.P49insFs

c.146_147insT

1 paper

NM_003064.4

p.E50K

c.148G>A

3 papers

NM_003064.4

p.E50D

c.150G>T

5 papers

NM_003064.4

p.C51Y

c.152G>A

1 paper

NM_003064.4

p.S40insFs

c.118dupT

1 paper

NM_003064.4

p.Q52delins

c.155delinsT