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

3 papers

NM_005502.4

p.R579*

c.1735C>T

Surrounding Variants

5 papers

NM_005502.4

p.R579Q

c.1736G>A

1 paper

NM_005502.4

p.G577S

c.1729G>A

3 papers

NM_005502.4

p.D581E

c.1743C>G

3 papers

NM_005502.4

p.D581E

c.1743C>A

3 papers

NM_005502.4

p.D575G

c.1724A>G

1 paper

NM_005502.4

p.F583L

c.1747T>C

1 paper

NM_005502.4

p.D575N

c.1723G>A

1 paper

NM_005502.4

p.F583S

c.1748T>C

1 paper

NM_005502.4

p.F583L

c.1749T>G

1 paper

NM_005502.4

p.F583L

c.1749T>A

1 paper

NM_005502.4

p.Y573del1

c.1717_1719delGTA

2 papers

NM_005502.4

p.W574R

c.1720T>C