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

9 papers

NM_005502.4

p.M233V

c.697A>G

Surrounding Variants

4 papers

NM_005502.4

p.M233L

c.697A>T

1 paper

NM_005502.4

p.M233K

c.698T>A

1 paper

NM_005502.4

p.M233I

c.699G>T

1 paper

NM_005502.4

p.M233I

c.699G>C

1 paper

NM_005502.4

p.M233I

c.699G>A

1 paper

NM_005502.4

p.D234Y

c.700G>T

1 paper

NM_005502.4

p.D234H

c.700G>C

1 paper

NM_005502.4

p.S231S

c.693C>T

1 paper

NM_005502.4

p.S231F

c.692C>T

1 paper

NM_005502.4

p.R230L

c.689G>T

2 papers

NM_005502.4

p.R230P

c.689G>C

1 paper

NM_005502.4

p.R230H

c.689G>A