Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.N576S

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.N576S
c.1727A>G
Surrounding Variants
1 paper
NM_001105247.2
p.N576fs
c.1726_1727fs
1 paper
NM_001105247.2
p.C579_L580delFs
c.1736_1739del4
1 paper
NM_001105247.2
p.N576_R585delFs
c.1726_1753del28
1 paper
NM_001105247.2
p.T574I
c.1721C>T
5 papers
NM_001105247.2
p.C579fs
c.1735_1736fs
3 papers
NM_001105247.2
p.L580P
c.1739T>C
1 paper
NM_001105247.2
p.L580L
c.1740C>T
2 papers
NM_001105247.2
p.S571*
c.1712C>A
2 papers
NM_001105247.2
p.S571*
c.1712C>G
1 paper
NM_001105247.2
p.A582delFs
c.1746delC
1 paper
NM_001105247.2
p.F583fs
c.1747_1748fs
1 paper
NM_001105247.2
p.F583delFs
c.1748_1749delTC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."