Varaico: Literature-Extracted Genetic Variants

Gene:CAMP
Variant:p.P71P

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.P71P
c.213A>T
Surrounding Variants
1 paper
NM_004345.5
p.D68E
c.204T>A
1 paper
NM_004345.5
p.D68A
c.203A>C
1 paper
NM_004345.5
p.P76T
c.226C>A
1 paper
NM_004345.5
p.V77L
c.229G>T
1 paper
NM_004345.5
p.T80T
c.240A>T
1 paper
NM_004345.5
p.T84T
c.252A>G
1 paper
NM_004345.5
p.C86G
c.256T>G
1 paper
NM_004345.5
p.C86*
c.258C>A
1 paper
NM_004345.5
p.T90R
c.269C>G
1 paper
NM_004345.5
p.P94S
c.280C>T
1 paper
NM_004345.5
p.E95E
c.285G>A
1 paper
NM_004345.5
p.D98A
c.293A>C
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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."