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.A832S

c.2494G>T

Surrounding Variants

1 paper

NM_172232.4

p.T836A

c.2506A>G

1 paper

NM_172232.4

p.L839F

c.2515C>T

3 papers

NM_172232.4

p.D817Y

c.2449G>T

2 papers

NM_172232.4

p.R857C

c.2569C>T

1 paper

NM_172232.4

p.Q805H

c.2415G>T

1 paper

NM_172232.4

p.Q805H

c.2415G>C

1 paper

NM_172232.4

p.V865M

c.2593G>A

1 paper

NM_172232.4

p.D798Splc

c.2393-2400A>C

1 paper

NM_172232.4

p.V865M

c.2593G>A

1 paper

NM_172232.4

p.L868L

c.2604G>C

1 paper

NM_172232.4

p.I871T

c.2612T>C

1 paper

NM_172232.4

p.K894Q

c.2680A>C