Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.P250T

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.P250T
c.748C>A
Surrounding Variants
3 papers
NM_001105247.2
p.A247_L256del10
c.739_767del30
1 paper
NM_001105247.2
p.E244_A249del0
c.731_745del15
1 paper
NM_001105247.2
p.L242insFs
c.724dupC
1 paper
NM_001105247.2
p.R240_L242ins1
c.719_724dup6
2 papers
NM_001105247.2
p.A261_E264del4
c.781_791del12
4 papers
NM_001105247.2
p.L263_S270delFs
c.789_808del20
2 papers
NM_001105247.2
p.G237_A238insC
c.709_713ins3
4 papers
NM_001105247.2
p.E264fs
c.790_791fs
3 papers
NM_001105247.2
p.Q235*
c.703C>T
1 paper
NM_001105247.2
p.A234V
c.701C>T
1 paper
NM_001105247.2
p.S266R
c.796A>C
1 paper
NM_001105247.2
p.S266R
c.798C>A
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