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.F351L

c.1053T>A

Surrounding Variants

1 paper

NM_172232.4

p.A372P

c.1114G>C

1 paper

NM_172232.4

p.H326delFs

c.977_978delAT

3 papers

NM_172232.4

p.F321L

c.963T>G

3 papers

NM_172232.4

p.F321L

c.963T>A

3 papers

NM_172232.4

p.F321L

c.961T>C

2 papers

NM_172232.4

p.D259H

c.775G>C

1 paper

NM_172232.4

p.I248L

c.742A>T

1 paper

NM_172232.4

p.I248L

c.742A>C

1 paper

NM_172232.4

p.H239D

c.715C>G

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