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

6 papers

NM_001377321.1

p.L1504delFs

c.4510_4511delAG

Surrounding Variants

1 paper

NM_001377321.1

p.Q1506fs

c.4516_4517fs

1 paper

NM_001377321.1

p.S1505fs

c.4513_4514fs

1 paper

NM_001377321.1

p.S1505_Q1506del2

c.4513_4517del6

2 papers

NM_001377321.1

p.L1504del1

c.4510_4511delGAG

1 paper

NM_001377321.1

p.L1504fs

c.4510_4511fs

1 paper

NM_001377321.1

p.E1519V

c.4556A>T

1 paper

NM_001377321.1

p.N1524_V1525insFs

c.4572_4573insA

1 paper

NM_001377321.1

p.V1525fs

c.4573_4574fs

1 paper

NM_001377321.1

p.D1530H

c.4588G>C

1 paper

NM_001377321.1

p.L1537R

c.4610T>G

2 papers

NM_001377321.1

p.R1485W

c.4453C>T

1 paper

NM_001377321.1

p.V1480A

c.4439T>C