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

2 papers

NM_005502.4

p.I1445M

c.4335C>G

Surrounding Variants

1 paper

NM_005502.4

p.M1446V

c.4336A>G

1 paper

NM_005502.4

p.M1446L

c.4336A>C

1 paper

NM_005502.4

p.M1446T

c.4337T>C

1 paper

NM_005502.4

p.I1445F

c.4333A>T

1 paper

NM_005502.4

p.L1448I

c.4342C>A

1 paper

NM_005502.4

p.P1442T

c.4324C>A

1 paper

NM_005502.4

p.P1440L

c.4319C>T

1 paper

NM_005502.4

p.N1451H

c.4351A>C

1 paper

NM_005502.4

p.N1451I

c.4352A>T

1 paper

NM_005502.4

p.G1452A

c.4355G>C

1 paper

NM_005502.4

p.N1453K

c.4359C>G

1 paper

NM_005502.4

p.N1453K

c.4359C>A