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

3 papers

NM_172232.4

p.L43insFs

c.128dupT

Surrounding Variants

1 paper

NM_172232.4

p.L43fs

c.127_128fs

1 paper

NM_172232.4

p.L43delFs

c.128delA

1 paper

NM_172232.4

p.L43fs

c.127_128fs

1 paper

NM_172232.4

p.P39P

c.117A>T

1 paper

NM_172232.4

p.Y58C

c.173A>G

1 paper

NM_172232.4

p.I64V

c.190A>G

1 paper

NM_172232.4

p.Q93L

c.278A>T

1 paper

NM_172232.4

p.L23L

c.69A>G

1 paper

NM_172232.4

p.N21D

c.61A>G

1 paper

NM_172232.4

p.Q13R

c.38A>G

1 paper

NM_172232.4

p.V10A

c.29T>C

1 paper

NM_172232.4

p.Y109D

c.325T>G