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

2 papers

NM_005502.4

p.E612K

c.1834G>A

Surrounding Variants

1 paper

NM_005502.4

p.E612*

c.1834G>T

1 paper

NM_005502.4

p.E612Q

c.1834G>C

1 paper

NM_005502.4

p.T611T

c.1833C>G

1 paper

NM_005502.4

p.E612D

c.1836G>T

1 paper

NM_005502.4

p.E612D

c.1836G>C

2 papers

NM_005502.4

p.K613E

c.1837A>G

4 papers

NM_005502.4

p.T609M

c.1826C>T

1 paper

NM_005502.4

p.T609K

c.1826C>A

1 paper

NM_005502.4

p.L608delFs

c.1824delC

1 paper

NM_005502.4

p.G616C

c.1846G>T

1 paper

NM_005502.4

p.G616R

c.1846G>C

5 papers

NM_005502.4

p.G616V

c.1847G>T