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.G412G

c.1236C>T

Surrounding Variants

1 paper

NM_001377321.1

p.Y418H

c.1252T>C

1 paper

NM_001377321.1

p.G442E

c.1325G>A

2 papers

NM_001377321.1

p.S444fs

c.1330_1331fs

1 paper

NM_001377321.1

p.L443_S444del2

c.1327_1331del6

3 papers

NM_001377321.1

p.L443_S444delFs

c.1328_1331del4

1 paper

NM_001377321.1

p.S444_V445del2

c.1330_1334del6

1 paper

NM_001377321.1

p.G449Splc

c.1345+2T>C

1 paper

NM_001377321.1

p.S450L

c.1349C>T

2 papers

NM_001377321.1

p.I453fs

c.1357_1358fs

1 paper

NM_001377321.1

p.I453delFs

c.1357_1358delAT

2 papers

NM_001377321.1

p.Q457*

c.1369C>T

1 paper

NM_001377321.1

p.I467V

c.1399A>G