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.I248L

c.742A>C

Surrounding Variants

1 paper

NM_172232.4

p.I248L

c.742A>T

1 paper

NM_172232.4

p.H239D

c.715C>G

2 papers

NM_172232.4

p.D259H

c.775G>C

1 paper

NM_172232.4

p.I223V

c.667A>G

1 paper

NM_172232.4

p.P217S

c.649C>T

1 paper

NM_172232.4

p.P217A

c.649C>G

2 papers

NM_172232.4

p.T215N

c.644C>A

3 papers

NM_172232.4

p.N190S

c.569A>G

1 paper

NM_172232.4

p.A178T

c.532G>A

1 paper

NM_172232.4

p.S160L

c.479C>T

1 paper

NM_172232.4

p.P147S

c.439C>T

1 paper

NM_172232.4

p.R140H

c.419G>A