Varaico: Literature-Extracted Genetic Variants

Gene:LEAP2
Variant:p.C65S

LEAP2

12 papers

RefSeq Summary

This gene encodes a cysteine-rich cationic antimicrobial peptide that is expressed predominantly in the liver. The mature peptide has activity against gram-positive bacteria and yeasts. [provided by R...

Pfam Domains

LEAP-2aa 1–77UCSCLiver-expressed antimicrobial peptide 2 precursor (LEAP-2)

Gene Aliases

HGNC Name

liver enriched antimicrobial peptide 2

HGNC Alias Symbol

LEAP-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052971.3
p.C65S
c.193T>A
Surrounding Variants
1 paper
NM_052971.3
p.L64I
c.190C>A
1 paper
NM_052971.3
p.S58fs
c.172_173fs
1 paper
NM_052971.3
p.S58delFs
c.173_174delCT
1 paper
NM_052971.3
p.D57G
c.170A>G
1 paper
NM_052971.3
p.F41V
c.121T>G
1 paper
NM_052971.3
p.R36Q
c.107G>A
1 paper
NM_052971.3
p.P35insFs
c.104_105insA
1 paper
NM_052971.3
p.K32fs
c.94_95fs
1 paper
NM_052971.3
p.K32delFs
c.94_95delAA
1 paper
NM_052971.3
p.G22D
c.65G>A
1 paper
NM_052971.3
p.D21D
c.63T>C
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