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

4 papers

NM_172232.4

p.M960V

c.2878A>G

Surrounding Variants

1 paper

NM_172232.4

p.S949S

c.2847C>T

1 paper

NM_172232.4

p.D922Splc

c.2765-2A>G

1 paper

NM_172232.4

p.S974G

c.2920A>G

1 paper

NM_172232.4

p.Y978S

c.2933A>C

1 paper

NM_172232.4

p.I986V

c.2956A>G

2 papers

NM_172232.4

p.V997A

c.2990T>C

1 paper

NM_172232.4

p.Q1010_E1011Splc

c.3030+6C>G

1 paper

NM_172232.4

p.K894N

c.2682A>T

1 paper

NM_172232.4

p.K894N

c.2682A>C

1 paper

NM_172232.4

p.K894R

c.2681A>G

1 paper

NM_172232.4

p.K894Q

c.2680A>C

1 paper

NM_172232.4

p.I871T

c.2612T>C