Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.L71V

ARMC5

167 papers

RefSeq Summary

This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is impli...

Pfam Domains

ARM_ARMC5aa 127–416UCSCARMC5

Gene Aliases

HGNC Name

armadillo repeat containing 5

HGNC Alias Symbol

FLJ13063

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001105247.2
p.L71V
c.211C>G
Surrounding Variants
4 papers
NM_001105247.2
p.A72fs
c.214_215fs
2 papers
NM_001105247.2
p.P69fs
c.205_206fs
1 paper
NM_001105247.2
p.L73Q
c.218T>A
1 paper
NM_001288767.2
p.L168R
c.503T>G
1 paper
NM_001105247.2
p.L74delFs
c.220delC
5 papers
NM_001105247.2
p.L74fs
c.220_221fs
4 papers
NM_001105247.2
p.L74Fs
c.220_222delinsTTFs
1 paper
NM_001105247.2
p.L67fs
c.199_200fs
3 papers
NM_001105247.2
p.R76*
c.226C>T
1 paper
NM_001105247.2
p.G66delFs
c.198delG
3 papers
NM_001105247.2
p.A77_P89delFs
c.231_265del35
4 papers
NM_001105247.2
p.G65fs
c.193_194fs
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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."