Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.G520fs

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.G520fs
c.1558_1559fs
Surrounding Variants
2 papers
NM_001105247.2
p.G520delFs
c.1559delG
2 papers
NM_001105247.2
p.E517K
c.1549G>A
1 paper
NM_001105247.2
p.E516insFs
c.1547_1548insC
2 papers
NM_001105247.2
p.P524_P536del0
c.1572_1607del36
1 paper
NM_001105247.2
p.E516*
c.1546G>T
1 paper
NM_001105247.2
p.I515fs
c.1543_1544fs
1 paper
NM_001288767.2
p.A609_I610insFs
c.1827_1828dupCA
1 paper
NM_001105247.2
p.L527L
c.1579C>T
2 papers
NM_001105247.2
p.P511L
c.1532C>T
2 papers
NM_001105247.2
p.L529_S530delFs
c.1586_1589del4
1 paper
NM_001105247.2
p.A514ins0
c.1540_1542dupGCC
2 papers
NM_001105247.2
p.L529insFs
c.1586dupT
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