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.Y770*

c.2310C>G

Surrounding Variants

1 paper

NM_005502.4

p.Y770*

c.2310C>A

6 papers

NM_005502.4

p.V771L

c.2311G>T

7 papers

NM_005502.4

p.V771L

c.2311G>C

66 papers

NM_005502.4

p.V771M

c.2311G>A

1 paper

NM_005502.4

p.Y770F

c.2309A>T

1 paper

NM_005502.4

p.Y770C

c.2309A>G

1 paper

NM_005502.4

p.D769D

c.2307C>T

1 paper

NM_005502.4

p.D769E

c.2307C>G

1 paper

NM_005502.4

p.D769E

c.2307C>A

2 papers

NM_005502.4

p.G772S

c.2314G>A

1 paper

NM_005502.4

p.D769V

c.2306A>T

1 paper

NM_005502.4

p.D769Y

c.2305G>T