Varaico: Literature-Extracted Genetic Variants

Gene:ARMC6
Variant:p.L130I

ARMC6

26 papers

RefSeq Summary

The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms...

Pfam Domains

ARMC6_Naa 29–89UCSCArmadillo repeat-containing protein 6 N-terminal domain
Armaa 209–251UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

armadillo repeat containing 6

HGNC Alias Symbol

MGC19595

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001199196.2
p.L130I
c.388C>A
Surrounding Variants
1 paper
NM_001199196.2
p.L130V
c.388C>G
1 paper
NM_001199196.2
p.A131V
c.392C>T
1 paper
NM_001199196.2
p.L155V
c.463C>G
1 paper
NM_001199196.2
p.R203C
c.607C>T
1 paper
NM_001199196.2
p.H204H
c.612C>T
1 paper
NM_001199196.2
p.H231Y
c.691C>T
1 paper
NM_001199196.2
p.F251delFs
c.751delT
1 paper
NM_001199196.2
p.R256C
c.766C>T
1 paper
NM_001199196.2
p.H265Y
c.793C>T
1 paper
NM_001199196.2
p.A285Splc
c.854-3C>G
1 paper
NM_001199196.2
p.R302C
c.904C>T
1 paper
NM_001199196.2
p.Q341_E342Splc
c.1024-2A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."