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

1 paper

NM_002638.4

p.Q44H

c.132A>T

Surrounding Variants

1 paper

NM_002638.4

p.G43G

c.129A>T

1 paper

NM_002638.4

p.P46T

c.136C>A

1 paper

NM_002638.4

p.P46H

c.137C>A

1 paper

NM_002638.4

p.G43R

c.127G>A

1 paper

NM_002638.4

p.F41L

c.123C>A

1 paper

NM_002638.4

p.F41F

c.123C>T

1 paper

NM_002638.4

p.V47V

c.141T>A

1 paper

NM_002638.4

p.K48delFs

c.142_143delAA

3 papers

NM_002638.4

p.K48R

c.143A>G

2 papers

NM_002638.4

p.K48I

c.143A>T

1 paper

NM_002638.4

p.K48K

c.144A>G

1 paper

NM_002638.4

p.G49R

c.145G>A