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.V718L

c.2152G>C

Surrounding Variants

1 paper

NM_005502.4

p.V718L

c.2152G>T

5 papers

NM_005502.4

p.V717M

c.2149G>A

2 papers

NM_005502.4

p.P715T

c.2143C>A

1 paper

NM_005502.4

p.F721S

c.2162T>C

1 paper

NM_005502.4

p.F721Y

c.2162T>A

1 paper

NM_005502.4

p.D714N

c.2140G>A

2 papers

NM_005502.4

p.S713G

c.2137A>G

1 paper

NM_005502.4

p.Y712C

c.2135A>G

3 papers

NM_005502.4

p.Y712H

c.2134T>C

4 papers

NM_005502.4

p.V724M

c.2170G>A

1 paper

NM_005502.4

p.P711L

c.2132C>T

1 paper

NM_005502.4

p.P711S

c.2131C>T