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.Q1452K

c.4354C>A

Surrounding Variants

1 paper

NM_172232.4

p.D1457H

c.4369G>C

2 papers

NM_172232.4

p.A1444V

c.4331C>T

1 paper

NM_172232.4

p.W1472Splc

c.4415+3G>A

1 paper

NM_172232.4

p.K1440_L1441Splc

c.4320+1G>T

6 papers

NM_172232.4

p.K1440_L1441Splc

c.4320+1G>C

1 paper

NM_172232.4

p.H1418L

c.4253A>T

1 paper

NM_172232.4

p.I1416L

c.4246A>T

1 paper

NM_172232.4

p.I1416L

c.4246A>C

1 paper

NM_172232.4

p.I1413T

c.4238T>C

1 paper

NM_172232.4

p.Q1392*

c.4174C>T

1 paper

NM_172232.4

p.Q1381E

c.4141C>G

1 paper

NM_172232.4

p.L1373Q

c.4118T>A