Varaico: Literature-Extracted Genetic Variants

Gene:ABCA10
Variant:p.A5V

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
2 papers
NM_001377321.1
p.A5V
c.14C>T
Surrounding Variants
1 paper
NM_001377321.1
p.K3Q
c.7A>C
1 paper
NM_001377321.1
p.N2K
c.6T>G
1 paper
NM_001377321.1
p.N2K
c.6T>A
1 paper
NM_001377321.1
p.M1T
c.2T>C
1 paper
NM_001377321.1
p.H33N
c.97C>A
1 paper
NM_001377321.1
p.R47H
c.140G>A
1 paper
NM_001377321.1
p.F50F
c.150T>C
1 paper
NM_001377321.1
p.W52_G53del1
c.156_158delCCC
1 paper
NM_001377321.1
p.K60N
c.180G>T
1 paper
NM_001377321.1
p.K60N
c.180G>C
1 paper
NM_001377321.1
p.E67Splc
c.199+2T>C
1 paper
NM_001377321.1
p.A71T
c.211G>A
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