Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.S571*

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
2 papers
NM_001105247.2
p.S571*
c.1712C>A
Surrounding Variants
2 papers
NM_001105247.2
p.S571*
c.1712C>G
1 paper
NM_001105247.2
p.T574I
c.1721C>T
1 paper
NM_001105247.2
p.R568H
c.1703G>A
1 paper
NM_001105247.2
p.N576_R585delFs
c.1726_1753del28
1 paper
NM_001105247.2
p.N576fs
c.1726_1727fs
1 paper
NM_001105247.2
p.N576S
c.1727A>G
1 paper
NM_001105247.2
p.C579_L580delFs
c.1736_1739del4
1 paper
NM_001105247.2
p.P564fs
c.1690_1691fs
5 papers
NM_001105247.2
p.C579fs
c.1735_1736fs
1 paper
NM_001105247.2
p.P564delFs
c.1691delC
3 papers
NM_001105247.2
p.L580P
c.1739T>C
1 paper
NM_001105247.2
p.L580L
c.1740C>T
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