Varaico: Literature-Extracted Genetic Variants

Gene:ABCA10
Variant:p.Y261*

ABCA10

143 papers

RefSeq Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular...

Pfam Domains

ABC2_membrane_3aa 75–329UCSCABC-2 family transporter protein
ABC_tranaa 410–556UCSCABC transporter
ACT_13aa 621–694UCSCACT-like domain
ABC_tranaa 1222–1368UCSCABC transporter
R1_ABCA1aa 1432–1506UCSCABCA1-like, C-terminal R1 regulatory domain

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 10

HGNC Alias Symbol

EST698739

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001377321.1
p.Y261*
c.783T>A
Surrounding Variants
3 papers
NM_001377321.1
p.Y261*
c.783T>G
1 paper
NM_001377321.1
p.Y261Y
c.783T>C
2 papers
NM_001377321.1
p.L260S
c.779T>C
1 paper
NM_001377321.1
p.C254R
c.760T>C
1 paper
NM_001377321.1
p.W270C
c.810G>T
1 paper
NM_001377321.1
p.W270C
c.810G>C
1 paper
NM_001377321.1
p.L272S
c.815T>C
1 paper
NM_001377321.1
p.L274F
c.820C>T
1 paper
NM_001377321.1
p.P277T
c.829C>A
1 paper
NM_001377321.1
p.T281A
c.841A>G
1 paper
NM_001377321.1
p.A241T
c.721G>A
1 paper
NM_001377321.1
p.M231V
c.691A>G
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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."