Varaico: Literature-Extracted Genetic Variants

PI3

380 papers

RefSeq Summary

This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four...

Pfam Domains

Cementoinaa 24–51UCSCTrappin protein transglutaminase binding domain

Cementoinaa 46–72UCSCTrappin protein transglutaminase binding domain

WAPaa 72–116UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

Gene Aliases

HGNC Name

peptidase inhibitor 3

HGNC Alias Symbols

ESI; SKALP; ELAFIN; WAP3; WFDC14; cementoin

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002638.4

p.V19D

c.56T>A

Surrounding Variants

1 paper

NM_002638.4

p.V19I

c.55G>A

1 paper

NM_002638.4

p.V19V

c.57T>A

1 paper

NM_002638.4

p.L20Q

c.59T>A

1 paper

NM_002638.4

p.L18P

c.53T>C

1 paper

NM_002638.4

p.L18M

c.52C>A

1 paper

NM_002638.4

p.L18V

c.52C>G

1 paper

NM_002638.4

p.T17insFs

c.50_51insA

4 papers

NM_002638.4

p.T17M

c.50C>T

1 paper

NM_002638.4

p.T17A

c.49A>G

1 paper

NM_002638.4

p.G16G

c.48G>A

1 paper

NM_002638.4

p.G16G

c.48G>C

1 paper

NM_002638.4

p.G16A

c.47G>C