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.S52A

c.154T>G

Surrounding Variants

1 paper

NM_002638.4

p.S52_V53del1

c.155_157delCAG

1 paper

NM_002638.4

p.S52_V53insFs

c.156_157insGG

1 paper

NM_002638.4

p.Q50H

c.150A>C

1 paper

NM_002638.4

p.K54insFs

c.160_161insG

1 paper

NM_002638.4

p.G49insFs

c.146_147insA

1 paper

NM_002638.4

p.G49R

c.145G>A

1 paper

NM_002638.4

p.G55S

c.163G>A

1 paper

NM_002638.4

p.G49R

c.145G>C

1 paper

NM_002638.4

p.K48K

c.144A>G

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.Q56_Q62del0

c.168_185del18