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.C113Y

c.338G>A

Surrounding Variants

1 paper

NM_002638.4

p.C113R

c.337T>C

1 paper

NM_002638.4

p.F114I

c.340T>A

1 paper

NM_002638.4

p.F114S

c.341T>C

1 paper

NM_002638.4

p.M111L

c.331A>C

1 paper

NM_002638.4

p.M111L

c.331A>T

2 papers

NM_002638.4

p.P116L

c.347C>T

1 paper

NM_002638.4

p.G110R

c.328G>A

1 paper

NM_002638.4

p.G110insFs

c.328_329insC

1 paper

NM_002638.4

p.Q117R

c.350A>G

1 paper

NM_002638.4

p.C109_G110insFs

c.327_328insC

1 paper

NM_002638.4

p.G107G

c.321C>A

1 paper

NM_002638.4

p.C105Y

c.314G>A