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

71 papers

NM_005502.4

p.N1800H

c.5398A>C

Surrounding Variants

3 papers

NM_005502.4

p.N1800S

c.5399A>G

1 paper

NM_005502.4

p.I1799N

c.5396T>A

1 paper

NM_005502.4

p.D1801Y

c.5401G>T

2 papers

NM_005502.4

p.I1799V

c.5395A>G

1 paper

NM_005502.4

p.N1797S

c.5390A>G

1 paper

NM_005502.4

p.K1795N

c.5385G>T

1 paper

NM_005502.4

p.K1795N

c.5385G>C

1 paper

NM_005502.4

p.K1795R

c.5384A>G

2 papers

NM_005502.4

p.N1794_K1795Splc

c.5383-1G>T

2 papers

NM_005502.4

p.N1794_K1795Splc

c.5383-2A>T

4 papers

NM_005502.4

p.V1806M

c.5416G>A

1 paper

NM_005502.4

p.L1808W

c.5423T>G