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.I239T

c.716T>C

Surrounding Variants

1 paper

NM_005502.4

p.I239V

c.715A>G

1 paper

NM_005502.4

p.L240L

c.720G>A

1 paper

NM_005502.4

p.K237del1

c.709_710delCTT

2 papers

NM_005502.4

p.K237E

c.709A>G

3 papers

NM_005502.4

p.L240_R241Splc

c.720+6T>C

1 paper

NM_005502.4

p.I235I

c.705C>T

1 paper

NM_005502.4

p.D234Y

c.700G>T

1 paper

NM_005502.4

p.D234H

c.700G>C

1 paper

NM_005502.4

p.M233I

c.699G>T

1 paper

NM_005502.4

p.M233I

c.699G>C

1 paper

NM_005502.4

p.M233I

c.699G>A

1 paper

NM_005502.4

p.M233K

c.698T>A