Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.L711L

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.L711L
c.2131C>T
Surrounding Variants
4 papers
NM_001105247.2
p.S713delFs
c.2139delT
1 paper
NM_001105247.2
p.P714S
c.2140C>T
1 paper
NM_001105247.2
p.L708delFs
c.2123delT
4 papers
NM_001105247.2
p.L708fs
c.2122_2123fs
6 papers
NM_001105247.2
p.T715fs
c.2143_2144fs
2 papers
NM_001105247.2
p.S706fs
c.2116_2117fs
2 papers
NM_001105247.2
p.S706insFs
c.2116dupT
4 papers
NM_001105247.2
p.L705fs
c.2113_2114fs
1 paper
NM_001288767.2
p.S812delFs
c.2436delC
1 paper
NM_001105247.2
p.L705delFs
c.2113delC
1 paper
NM_001105247.2
p.D703E
c.2109C>A
1 paper
NM_001105247.2
p.D703E
c.2109C>G
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