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.C626S

c.1876T>A

Surrounding Variants

1 paper

NM_005502.4

p.C626R

c.1876T>C

1 paper

NM_005502.4

p.C626S

c.1877G>C

1 paper

NM_005502.4

p.C626Y

c.1877G>A

2 papers

NM_005502.4

p.P625H

c.1874C>A

2 papers

NM_005502.4

p.Y627*

c.1881C>G

1 paper

NM_005502.4

p.Y627fs

c.1879_1880fs

1 paper

NM_005502.4

p.Y627insFs

c.1880_1881insAA

2 papers

NM_005502.4

p.Y627*

c.1881C>A

1 paper

NM_005502.4

p.V628F

c.1882G>T

3 papers

NM_005502.4

p.V628I

c.1882G>A

3 papers

NM_005502.4

p.V628A

c.1883T>C

2 papers

NM_005502.4

p.M622I

c.1866G>T