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.G123E

c.368G>A

Surrounding Variants

1 paper

NM_003064.4

p.G123A

c.368G>C

1 paper

NM_003064.4

p.G123G

c.369G>C

1 paper

NM_003064.4

p.C122Y

c.365G>A

2 papers

NM_003064.4

p.M121T

c.362T>C

1 paper

NM_003064.4

p.M121L

c.361A>T

1 paper

NM_003064.4

p.M119delFs

c.355delT

3 papers

NM_003064.4

p.C118W

c.354C>G

1 paper

NM_003064.4

p.S128Y

c.383C>A

1 paper

NM_003064.4

p.C118S

c.352T>A

1 paper

NM_003064.4

p.C117*

c.351T>A

1 paper

NM_003064.4

p.C126_S128ins1

c.376_384dup9

1 paper

NM_003064.4

p.C117Y

c.350G>A