Varaico: Literature-Extracted Genetic Variants

Gene:ARMC3
Variant:p.H126del1

ARMC3

86 papers

RefSeq Summary

Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in ...

Pfam Domains

Armaa 87–122UCSCArmadillo/beta-catenin-like repeat
Armaa 124–164UCSCArmadillo/beta-catenin-like repeat
Armaa 142–179UCSCArmadillo/beta-catenin-like repeat
Armaa 206–241UCSCArmadillo/beta-catenin-like repeat
ARM_ARMC5aa 252–526UCSCARMC5
EDR1_CTR1_ARMC3_peptaa 718–859UCSCEDR1/CTR1/ARMC3, peptidase-like

Gene Aliases

HGNC Name

armadillo repeat containing 3

HGNC Alias Symbols

FLJ32827; CT81; VAC8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173081.5
p.H126del1
c.376_378delCAT
Surrounding Variants
1 paper
NM_173081.5
p.H126Y
c.376C>T
1 paper
NM_173081.5
p.Y140F
c.419A>T
1 paper
NM_173081.5
p.K167M
c.500A>T
1 paper
NM_173081.5
p.L117F
c.349C>T
1 paper
NM_173081.5
p.V113V
c.339C>A
1 paper
NM_173081.5
p.K102fs
c.304_305fs
1 paper
NM_173081.5
p.N98N
c.294T>C
1 paper
NM_173081.5
p.D180G
c.539A>G
1 paper
NM_173081.5
p.R184*
c.550C>T
1 paper
NM_173081.5
p.I218T
c.653T>C
1 paper
NM_173081.5
p.A219V
c.656C>T
1 paper
NM_173081.5
p.I240V
c.718A>G
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