Varaico: Literature-Extracted Genetic Variants

ABCA1

1,278 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 595–841UCSCABC-2 family transporter protein

ABC_tranaa 916–1061UCSCABC transporter

ACT_13aa 1173–1244UCSCACT-like domain

ABC2_membrane_3aa 1344–1869UCSCABC-2 family transporter protein

ABC_tranaa 1929–2073UCSCABC transporter

R1_ABCA1aa 2136–2210UCSCABCA1-like, C-terminal R1 regulatory domain

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 1

HGNC Previous Symbols

ABC1; HDLDT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005502.4

p.E869D

c.2607A>C

Surrounding Variants

1 paper

NM_005502.4

p.E869D

c.2607A>T

6 papers

NM_005502.4

p.E868K

c.2602G>A

2 papers

NM_005502.4

p.E872*

c.2614G>T

1 paper

NM_005502.4

p.W865C

c.2595G>T

1 paper

NM_005502.4

p.W865C

c.2595G>C

1 paper

NM_005502.4

p.D871_K873del3

c.2611_2618del9

1 paper

NM_005502.4

p.W865R

c.2593T>A

1 paper

NM_005502.4

p.Y864C

c.2591A>G

1 paper

NM_005502.4

p.H875insFs

c.2624_2625insGA

1 paper

NM_005502.4

p.H875fs

c.2623_2624fs

1 paper

NM_005502.4

p.P876S

c.2626C>T

1 paper

NM_005502.4

p.S863P

c.2587T>C