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.P855S

c.2563C>T

Surrounding Variants

1 paper

NM_005502.4

p.P855R

c.2564C>G

1 paper

NM_005502.4

p.P855delFs

c.2565delG

1 paper

NM_005502.4

p.W856C

c.2568G>T

2 papers

NM_005502.4

p.W856fs

c.2566_2567fs

1 paper

NM_005502.4

p.W856C

c.2568G>C

1 paper

NM_005502.4

p.W856delFs

c.2568delC

2 papers

NM_005502.4

p.P853S

c.2557C>T

1 paper

NM_005502.4

p.I852S

c.2555T>G

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.P859S

c.2575C>T

1 paper

NM_005502.4

p.P859L

c.2576C>T