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.I101T

c.302T>C

Surrounding Variants

1 paper

NM_002638.4

p.I101N

c.302T>A

1 paper

NM_002638.4

p.I101F

c.301A>T

1 paper

NM_002638.4

p.I101I

c.303C>T

1 paper

NM_002638.4

p.C98*

c.294C>A

1 paper

NM_002638.4

p.C104S

c.310T>A

1 paper

NM_002638.4

p.C98S

c.293G>C

1 paper

NM_002638.4

p.C104S

c.311G>C

1 paper

NM_002638.4

p.C98F

c.293G>T

2 papers

NM_002638.4

p.C98S

c.292T>A

1 paper

NM_002638.4

p.D97A

c.290A>C

1 paper

NM_002638.4

p.C105Y

c.314G>A

1 paper

NM_002638.4

p.G107G

c.321C>A