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.V9_V10insFs

c.27_28insG

Surrounding Variants

1 paper

NM_002638.4

p.I8N

c.23T>A

1 paper

NM_002638.4

p.V10insFs

c.29_30insA

1 paper

NM_002638.4

p.I8V

c.22A>G

1 paper

NM_002638.4

p.V11L

c.31G>C

1 paper

NM_002638.4

p.V11L

c.31G>T

1 paper

NM_002638.4

p.L7M

c.19T>A

3 papers

NM_002638.4

p.F6L

c.18C>A

1 paper

NM_002638.4

p.F6F

c.18C>T

2 papers

NM_002638.4

p.F12Y

c.35T>A

1 paper

NM_002638.4

p.S5_F6insFs

c.15_16insA

1 paper

NM_002638.4

p.S5S

c.15C>T

1 paper

NM_002638.4

p.S5N

c.14G>A