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.T1427T

c.4281G>T

Surrounding Variants

3 papers

NM_005502.4

p.T1427T

c.4281G>A

4 papers

NM_005502.4

p.T1427M

c.4280C>T

2 papers

NM_005502.4

p.P1428L

c.4283C>T

1 paper

NM_005502.4

p.C1429S

c.4285T>A

1 paper

NM_005502.4

p.C1429S

c.4286G>C

1 paper

NM_005502.4

p.C1429W

c.4287C>G

3 papers

NM_005502.4

p.C1429*

c.4287C>A

1 paper

NM_005502.4

p.P1425L

c.4274C>T

1 paper

NM_005502.4

p.A1431V

c.4292C>T

1 paper

NM_005502.4

p.G1432R

c.4294G>C

1 paper

NM_005502.4

p.G1432R

c.4294G>A

1 paper

NM_005502.4

p.E1433*

c.4297G>T