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.Q597E

c.1789C>G

Surrounding Variants

3 papers

NM_005502.4

p.Q597*

c.1789C>T

1 paper

NM_005502.4

p.L596F

c.1788G>T

1 paper

NM_005502.4

p.L596F

c.1788G>C

38 papers

NM_005502.4

p.Q597R

c.1790A>G

1 paper

NM_005502.4

p.Y595C

c.1784A>G

1 paper

NM_005502.4

p.A594V

c.1781C>T

5 papers

NM_005502.4

p.A594T

c.1780G>A

1 paper

NM_005502.4

p.V600M

c.1798G>A

3 papers

NM_005502.4

p.F593L

c.1779C>G

2 papers

NM_005502.4

p.F593fs

c.1777_1778fs

3 papers

NM_005502.4

p.F593L

c.1779C>A

3 papers

NM_005502.4

p.F593L

c.1777T>C