Varaico: Literature-Extracted Genetic Variants

ABCA5

115 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 30–416UCSCABC-2 family transporter protein

ABC_tranaa 497–643UCSCABC transporter

ACT_13aa 708–781UCSCACT-like domain

ABC_tranaa 1316–1461UCSCABC transporter

R1_ABCA1aa 1525–1602UCSCABCA1-like, C-terminal R1 regulatory domain

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 5

HGNC Alias Symbol

EST90625

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_172232.4

p.L615I

c.1843T>A

Surrounding Variants

1 paper

NM_172232.4

p.D609G

c.1826A>G

1 paper

NM_172232.4

p.D603N

c.1807G>A

1 paper

NM_172232.4

p.L630F

c.1888C>T

1 paper

NM_172232.4

p.L599*

c.1796T>G

1 paper

NM_172232.4

p.L599*

c.1796T>A

1 paper

NM_172232.4

p.V570A

c.1709T>C

1 paper

NM_172232.4

p.E550K

c.1648G>A

1 paper

NM_172232.4

p.D549E

c.1647T>G

1 paper

NM_172232.4

p.D549E

c.1647T>A

1 paper

NM_172232.4

p.V653L

c.1957G>T

1 paper

NM_172232.4

p.V653L

c.1957G>C

1 paper

NM_172232.4

p.D535D

c.1605T>C