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.V27Splc

c.80-6T>C

Surrounding Variants

2 papers

NM_002638.4

p.V29V

c.87T>A

1 paper

NM_002638.4

p.G31C

c.91G>T

1 paper

NM_002638.4

p.G31A

c.92G>C

1 paper

NM_002638.4

p.Q32K

c.94C>A

1 paper

NM_002638.4

p.D33G

c.98A>G

3 papers

NM_002638.4

p.T34P

c.100A>C

2 papers

NM_002638.4

p.T34N

c.101C>A

1 paper

NM_002638.4

p.V35V

c.105C>A

1 paper

NM_002638.4

p.K36E

c.106A>G

1 paper

NM_002638.4

p.K36N

c.108A>C

1 paper

NM_002638.4

p.K36N

c.108A>T

1 paper

NM_002638.4

p.G37R

c.109G>C