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

1–12 of 2982 variants

268 papers

NM_005502.4

p.R219K

c.656G>A

96 papers

NM_005502.4

p.R230C

c.688C>T

93 papers

NM_005502.4

p.I883M

c.2649A>G

80 papers

NM_005502.4

p.V825I

c.2473G>A

71 papers

NM_005502.4

p.N1800H

c.5398A>C

66 papers

NM_005502.4

p.V771M

c.2311G>A

57 papers

NM_005502.4

p.W590S

c.1769G>C

50 papers

NM_005502.4

p.C1477R

c.4429T>C

39 papers

NM_005502.4

p.K776N

c.2328G>T

39 papers

NM_005502.4

p.K776N

c.2328G>C

38 papers

NM_005502.4

p.Q597R

c.1790A>G

37 papers

NM_005502.4

p.R587W

c.1759C>T