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

4 papers

NM_005502.4

p.S212T

c.634T>A

Surrounding Variants

1 paper

NM_005502.4

p.S212A

c.634T>G

1 paper

NM_005502.4

p.V211A

c.632T>C

1 paper

NM_005502.4

p.S212delFs

c.635delG

4 papers

NM_005502.4

p.E210D

c.630A>T

1 paper

NM_005502.4

p.E213G

c.638A>G

4 papers

NM_005502.4

p.E210D

c.630A>C

1 paper

NM_005502.4

p.E210A

c.629A>C

1 paper

NM_005502.4

p.L214F

c.640C>T

1 paper

NM_005502.4

p.L214R

c.641T>G

1 paper

NM_005502.4

p.Q209L

c.626A>T

1 paper

NM_005502.4

p.C215S

c.643T>A

2 papers

NM_005502.4

p.Q209E

c.625C>G