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

7 papers

NM_005502.4

p.E815G

c.2444A>G

Surrounding Variants

1 paper

NM_005502.4

p.E815D

c.2445G>T

1 paper

NM_005502.4

p.E815D

c.2445G>C

1 paper

NM_005502.4

p.V814M

c.2440G>A

1 paper

NM_005502.4

p.P813A

c.2437C>G

2 papers

NM_005502.4

p.S812T

c.2435G>C

1 paper

NM_005502.4

p.F819I

c.2455T>A

1 paper

NM_005502.4

p.G818_F819insFs

c.2453_2456dup4

1 paper

NM_005502.4

p.F819fs

c.2455_2456fs

2 papers

NM_005502.4

p.N820S

c.2459A>G

1 paper

NM_005502.4

p.L821F

c.2461C>T

1 paper

NM_005502.4

p.L821R

c.2462T>G

1 paper

NM_005502.4

p.N808K

c.2424C>G