Varaico: Literature-Extracted Genetic Variants

Gene:ARMC3
Variant:p.L552I

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.L552I
c.1654C>A
Surrounding Variants
1 paper
NM_173081.5
p.L552P
c.1655T>C
1 paper
NM_173081.5
p.S557R
c.1669A>C
1 paper
NM_173081.5
p.S557R
c.1671C>A
1 paper
NM_173081.5
p.S557R
c.1671C>G
1 paper
NM_173081.5
p.N569K
c.1707C>A
1 paper
NM_173081.5
p.N569K
c.1707C>G
1 paper
NM_173081.5
p.F572F
c.1716C>T
1 paper
NM_173081.5
p.Y573N
c.1717T>A
1 paper
NM_173081.5
p.T513_C518delFs
c.1538_1553del16
1 paper
NM_173081.5
p.A503A
c.1509A>C
2 papers
NM_173081.5
p.A500T
c.1498G>A
1 paper
NM_173081.5
p.R490H
c.1469G>A
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