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

3 papers

NM_005502.4

p.R227*

c.679C>T

Surrounding Variants

1 paper

NM_005502.4

p.R227G

c.679C>G

1 paper

NM_005502.4

p.E226del1

c.676_677delCTC

1 paper

NM_005502.4

p.R227Q

c.680G>A

2 papers

NM_005502.4

p.E226G

c.677A>G

1 paper

NM_005502.4

p.V228I

c.682G>A

1 paper

NM_005502.4

p.A225_E226Fs

c.675_676delinsGFs

1 paper

NM_005502.4

p.A225ins3

c.674_675ins9

1 paper

NM_005502.4

p.A225T

c.673G>A

1 paper

NM_005502.4

p.L229P

c.686T>C

2 papers

NM_005502.4

p.A224T

c.670G>A

96 papers

NM_005502.4

p.R230C

c.688C>T

1 paper

NM_005502.4

p.R230L

c.689G>T