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.Y588Y

c.1764C>T

Surrounding Variants

5 papers

NM_005502.4

p.V589I

c.1765G>A

1 paper

NM_005502.4

p.R587fs

c.1759_1760fs

2 papers

NM_005502.4

p.R587P

c.1760G>C

1 paper

NM_005502.4

p.R587Q

c.1760G>A

14 papers

NM_005502.4

p.W590L

c.1769G>T

1 paper

NM_005502.4

p.W590insFs

c.1768dupT

57 papers

NM_005502.4

p.W590S

c.1769G>C

3 papers

NM_005502.4

p.W590*

c.1769G>A

1 paper

NM_005502.4

p.R587fs

c.1759_1760fs

37 papers

NM_005502.4

p.R587W

c.1759C>T

2 papers

NM_005502.4

p.M586_R587insFs

c.1758_1759insG

6 papers

NM_005502.4

p.W590C

c.1770G>T