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.Q849P

c.2546A>C

Surrounding Variants

2 papers

NM_005502.4

p.Q849R

c.2546A>G

1 paper

NM_005502.4

p.Q849H

c.2547G>T

1 paper

NM_005502.4

p.Q849H

c.2547G>C

1 paper

NM_005502.4

p.Q849*

c.2545C>T

1 paper

NM_005502.4

p.Q849K

c.2545C>A

2 papers

NM_005502.4

p.Y850C

c.2549A>G

1 paper

NM_005502.4

p.G848R

c.2542G>C

7 papers

NM_005502.4

p.G851R

c.2551G>C

7 papers

NM_005502.4

p.G851R

c.2551G>A

1 paper

NM_005502.4

p.I852S

c.2555T>G

2 papers

NM_005502.4

p.P853S

c.2557C>T

4 papers

NM_005502.4

p.P855S

c.2563C>T