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.C1465S

c.4394G>C

Surrounding Variants

1 paper

NM_005502.4

p.C1465F

c.4394G>T

2 papers

NM_005502.4

p.C1465R

c.4393T>C

1 paper

NM_005502.4

p.C1465S

c.4393T>A

1 paper

NM_005502.4

p.Q1464H

c.4392G>T

1 paper

NM_005502.4

p.Q1464H

c.4392G>C

1 paper

NM_005502.4

p.S1466T

c.4397G>C

1 paper

NM_005502.4

p.Q1464R

c.4391A>G

1 paper

NM_005502.4

p.C1463S

c.4388G>C

1 paper

NM_005502.4

p.S1467N

c.4400G>A

1 paper

NM_005502.4

p.C1463Y

c.4388G>A

1 paper

NM_005502.4

p.C1463S

c.4387T>A

1 paper

NM_005502.4

p.K1469E

c.4405A>G