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.F1810C

c.5429T>G

Surrounding Variants

1 paper

NM_005502.4

p.L1808F

c.5424G>T

1 paper

NM_005502.4

p.L1808F

c.5424G>C

1 paper

NM_005502.4

p.H1812Y

c.5434C>T

1 paper

NM_005502.4

p.L1808W

c.5423T>G

3 papers

NM_005502.4

p.H1812L

c.5435A>T

1 paper

NM_005502.4

p.H1812R

c.5435A>G

1 paper

NM_005502.4

p.C1814S

c.5440T>A

1 paper

NM_005502.4

p.C1814insFs

c.5440dupT

1 paper

NM_005502.4

p.C1814S

c.5441G>C

1 paper

NM_005502.4

p.C1814Y

c.5441G>A

4 papers

NM_005502.4

p.V1806M

c.5416G>A

1 paper

NM_005502.4

p.C1814fs

c.5440_5441fs