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

1–12 of 154 variants

6 papers

NM_172232.4

p.K1440_L1441Splc

c.4320+1G>C

4 papers

NM_172232.4

p.M960V

c.2878A>G

4 papers

NM_172232.4

p.G1159R

c.3475G>C

4 papers

NM_172232.4

p.G1159R

c.3475G>A

3 papers

NM_172232.4

p.L43insFs

c.128dupT

3 papers

NM_172232.4

p.S118F

c.353C>T

3 papers

NM_172232.4

p.N190S

c.569A>G

3 papers

NM_172232.4

p.F321L

c.961T>C

3 papers

NM_172232.4

p.F321L

c.963T>G

3 papers

NM_172232.4

p.F321L

c.963T>A

3 papers

NM_172232.4

p.D817Y

c.2449G>T

3 papers

NM_172232.4

p.A832S

c.2494G>T