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.I1080F

c.3238A>T

Surrounding Variants

1 paper

NM_172232.4

p.F1102C

c.3305T>G

1 paper

NM_172232.4

p.T1053A

c.3157A>G

2 papers

NM_172232.4

p.I1110V

c.3328A>G

1 paper

NM_172232.4

p.P1036Q

c.3107C>A

1 paper

NM_172232.4

p.M1035I

c.3105G>T

1 paper

NM_172232.4

p.M1035I

c.3105G>C

1 paper

NM_172232.4

p.M1035I

c.3105G>A

1 paper

NM_172232.4

p.A1025T

c.3073G>A

1 paper

NM_172232.4

p.F1023L

c.3069T>G

1 paper

NM_172232.4

p.F1023L

c.3069T>A

1 paper

NM_172232.4

p.F1023L

c.3067T>C

1 paper

NM_172232.4

p.I1151V

c.3451A>G