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.V825A

c.2474T>C

Surrounding Variants

1 paper

NM_005502.4

p.V825G

c.2474T>G

3 papers

NM_005502.4

p.V825L

c.2473G>C

80 papers

NM_005502.4

p.V825I

c.2473G>A

2 papers

NM_005502.4

p.S824S

c.2472G>A

6 papers

NM_005502.4

p.S824L

c.2471C>T

1 paper

NM_005502.4

p.S826C

c.2477C>G

1 paper

NM_005502.4

p.M827R

c.2480T>G

2 papers

NM_005502.4

p.M828V

c.2482A>G

1 paper

NM_005502.4

p.M828R

c.2483T>G

1 paper

NM_005502.4

p.L829R

c.2486T>G

1 paper

NM_005502.4

p.L821R

c.2462T>G

1 paper

NM_005502.4

p.L829P

c.2486T>C