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.K533N

c.1599G>C

Surrounding Variants

1 paper

NM_001377321.1

p.K533N

c.1599G>T

1 paper

NM_001377321.1

p.K535fs

c.1603_1604fs

1 paper

NM_001377321.1

p.K527N

c.1581A>T

1 paper

NM_001377321.1

p.K527N

c.1581A>C

1 paper

NM_001377321.1

p.D545N

c.1633G>A

1 paper

NM_001377321.1

p.E507*

c.1519G>T

1 paper

NM_001377321.1

p.K502delFs

c.1505_1506delCT

2 papers

NM_001377321.1

p.K502delFs

c.1504delT

1 paper

NM_001377321.1

p.D552H

c.1654G>C

1 paper

NM_001377321.1

p.R565R

c.1693C>A

1 paper

NM_001377321.1

p.N478T

c.1433A>C

1 paper

NM_001377321.1

p.R577*

c.1729C>T