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.C1477G

c.4429T>G

Surrounding Variants

50 papers

NM_005502.4

p.C1477R

c.4429T>C

1 paper

NM_005502.4

p.C1477S

c.4429T>A

8 papers

NM_005502.4

p.C1477F

c.4430G>T

1 paper

NM_005502.4

p.C1477S

c.4430G>C

1 paper

NM_005502.4

p.V1476M

c.4426G>A

2 papers

NM_005502.4

p.P1478S

c.4432C>T

2 papers

NM_005502.4

p.P1478L

c.4433C>T

3 papers

NM_005502.4

p.P1475L

c.4424C>T

3 papers

NM_005502.4

p.P1475S

c.4423C>T

1 paper

NM_005502.4

p.P1479S

c.4435C>T

1 paper

NM_005502.4

p.L1474P

c.4421T>C

2 papers

NM_005502.4

p.L1474Q

c.4421T>A