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.C195G

c.583T>G

Surrounding Variants

1 paper

NM_005502.4

p.L194del1

c.580_581delCAG

1 paper

NM_005502.4

p.L194P

c.581T>C

1 paper

NM_005502.4

p.N196S

c.587A>G

1 paper

NM_005502.4

p.S193I

c.578G>T

1 paper

NM_005502.4

p.S193N

c.578G>A

2 papers

NM_005502.4

p.G197E

c.590G>A

2 papers

NM_005502.4

p.T192R

c.575C>G

1 paper

NM_005502.4

p.G197G

c.591A>T

1 paper

NM_005502.4

p.S198T

c.592T>A

1 paper

NM_005502.4

p.T192S

c.574A>T

1 paper

NM_005502.4

p.L191L

c.573G>A

1 paper

NM_005502.4

p.L191*

c.572T>A