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.Q805P

c.2414A>C

Surrounding Variants

1 paper

NM_005502.4

p.Q805H

c.2415G>T

1 paper

NM_005502.4

p.Q805H

c.2415G>C

1 paper

NM_005502.4

p.W806G

c.2416T>G

1 paper

NM_005502.4

p.V804insFs

c.2411_2412insT

2 papers

NM_005502.4

p.V804M

c.2410G>A

1 paper

NM_005502.4

p.W806*

c.2418G>A

3 papers

NM_005502.4

p.D807N

c.2419G>A

1 paper

NM_005502.4

p.N808D

c.2422A>G

1 paper

NM_005502.4

p.I802T

c.2405T>C

1 paper

NM_005502.4

p.N808K

c.2424C>G

1 paper

NM_005502.4

p.N808K

c.2424C>A

1 paper

NM_005502.4

p.I802F

c.2404A>T