Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_001377321.1

p.I99V

c.295A>G

Surrounding Variants

1 paper

NM_001377321.1

p.N96D

c.286A>G

1 paper

NM_001377321.1

p.Q92E

c.274C>G

1 paper

NM_001377321.1

p.L85V

c.253C>G

1 paper

NM_001377321.1

p.A81S

c.241G>T

1 paper

NM_001377321.1

p.H73_G74del1

c.219_221delCCA

1 paper

NM_001377321.1

p.A71T

c.211G>A

1 paper

NM_001377321.1

p.E67Splc

c.199+2T>C

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.W52_G53del1

c.156_158delCCC

1 paper

NM_001377321.1

p.F50F

c.150T>C

1 paper

NM_001377321.1

p.R47H

c.140G>A