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.I193V

c.577A>G

Surrounding Variants

3 papers

NM_001377321.1

p.P203S

c.607C>T

1 paper

NM_001377321.1

p.T183A

c.547A>G

1 paper

NM_001377321.1

p.W180C

c.540G>T

1 paper

NM_001377321.1

p.W180C

c.540G>C

1 paper

NM_001377321.1

p.H207Q

c.621T>G

1 paper

NM_001377321.1

p.H207H

c.621T>C

1 paper

NM_001377321.1

p.H207Q

c.621T>A

1 paper

NM_001377321.1

p.L219_G221del3

c.655_662del9

1 paper

NM_001377321.1

p.L224_I225Splc

c.672+3G>A

1 paper

NM_001377321.1

p.M231V

c.691A>G

1 paper

NM_001377321.1

p.A241T

c.721G>A

1 paper

NM_001377321.1

p.C254R

c.760T>C