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.E63K

c.187G>A

Surrounding Variants

1 paper

NM_002638.4

p.E63insFs

c.187_188insA

1 paper

NM_002638.4

p.A61A

c.183G>T

1 paper

NM_002638.4

p.A61E

c.182C>A

1 paper

NM_002638.4

p.D57E

c.171T>A

1 paper

NM_002638.4

p.D57N

c.169G>A

1 paper

NM_002638.4

p.S70T

c.208T>A

2 papers

NM_002638.4

p.S70A

c.208T>G

1 paper

NM_002638.4

p.Q56_Q62del0

c.168_185del18

1 paper

NM_002638.4

p.G55S

c.163G>A

1 paper

NM_002638.4

p.K54insFs

c.160_161insG

1 paper

NM_002638.4

p.K72T

c.215A>C

1 paper

NM_002638.4

p.S52_V53insFs

c.156_157insGG