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.F778L

c.2334C>A

Surrounding Variants

1 paper

NM_005502.4

p.F778L

c.2334C>G

1 paper

NM_005502.4

p.A779S

c.2335G>T

2 papers

NM_005502.4

p.A779P

c.2335G>C

2 papers

NM_005502.4

p.A779T

c.2335G>A

1 paper

NM_005502.4

p.F778L

c.2332T>C

2 papers

NM_005502.4

p.A779V

c.2336C>T

1 paper

NM_005502.4

p.A779_S780Splc

c.2337+1G>C

1 paper

NM_005502.4

p.I777V

c.2329A>G

39 papers

NM_005502.4

p.K776N

c.2328G>T

39 papers

NM_005502.4

p.K776N

c.2328G>C

1 paper

NM_005502.4

p.L775P

c.2324T>C

1 paper

NM_005502.4

p.L775F

c.2323C>T