Varaico: Literature-Extracted Genetic Variants

Gene:CAMP
Variant:p.A42P

CAMP

177 papers

RefSeq Summary

This gene encodes a member of an antimicrobial peptide family, characterized by a highly conserved N-terminal signal peptide containing a cathelin domain and a structurally variable cationic antimicro...

Pfam Domains

Cathelicidinsaa 31–131UCSCCathelicidin
CAP18_Caa 136–163UCSCLPS binding domain of CAP18 (C terminal)

Gene Aliases

HGNC Name

cathelicidin antimicrobial peptide

HGNC Alias Symbols

CAP18; FALL39; FALL-39; LL37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004345.5
p.A42P
c.124G>C
Surrounding Variants
2 papers
NM_004345.5
p.G45R
c.133G>C
1 paper
NM_004345.5
p.E37K
c.109G>A
1 paper
NM_004345.5
p.K36R
c.107A>G
1 paper
NM_004345.5
p.K36fs
c.106_107fs
1 paper
NM_004345.5
p.Y35*
c.105C>G
1 paper
NM_004345.5
p.Y35C
c.104A>G
1 paper
NM_004345.5
p.Y35F
c.104A>T
1 paper
NM_004345.5
p.R49W
c.145C>T
2 papers
NM_004345.5
p.S34N
c.101G>A
1 paper
NM_004345.5
p.L33R
c.98T>G
1 paper
NM_004345.5
p.V32A
c.95T>C
1 paper
NM_004345.5
p.V32G
c.95T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."