Varaico: Literature-Extracted Genetic Variants

Gene:CAMP
Variant:p.V112V

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.V112V
c.336G>A
Surrounding Variants
1 paper
NM_004345.5
p.A117S
c.349G>T
1 paper
NM_004345.5
p.K106fs
c.316_317fs
1 paper
NM_004345.5
p.V105insFs
c.315dupG
2 papers
NM_004345.5
p.L104Q
c.311T>A
1 paper
NM_004345.5
p.L104R
c.311T>G
1 paper
NM_004345.5
p.K127E
c.379A>G
1 paper
NM_004345.5
p.G103G
c.309G>T
1 paper
NM_004345.5
p.G103R
c.307G>A
1 paper
NM_004345.5
p.D102V
c.305A>T
1 paper
NM_004345.5
p.D102N
c.304G>A
1 paper
NM_004345.5
p.D98A
c.293A>C
1 paper
NM_004345.5
p.D98G
c.293A>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."