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

1–12 of 136 variants

4 papers

NM_002638.4

p.T17M

c.50C>T

3 papers

NM_002638.4

p.F6L

c.18C>A

3 papers

NM_002638.4

p.T34P

c.100A>C

3 papers

NM_002638.4

p.K48R

c.143A>G

2 papers

NM_002638.4

p.M1T

c.2T>C

2 papers

NM_002638.4

p.F12Y

c.35T>A

2 papers

NM_002638.4

p.V19D

c.56T>A

2 papers

NM_002638.4

p.A23A

c.69T>A

2 papers

NM_002638.4

p.V29V

c.87T>A

2 papers

NM_002638.4

p.T34N

c.101C>A

2 papers

NM_002638.4

p.R38C

c.112C>T

2 papers

NM_002638.4

p.K48I

c.143A>T