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.E1327V

c.3980A>T

Surrounding Variants

1 paper

NM_172232.4

p.G1348S

c.4042G>A

1 paper

NM_172232.4

p.V1323M

c.3967G>A

1 paper

NM_172232.4

p.Y1318C

c.3953A>G

1 paper

NM_172232.4

p.Y1318D

c.3952T>G

1 paper

NM_172232.4

p.N1294S

c.3881A>G

1 paper

NM_172232.4

p.K1287K

c.3861A>G

1 paper

NM_172232.4

p.Q1282*

c.3844C>T

1 paper

NM_172232.4

p.E1264D

c.3792A>T

1 paper

NM_172232.4

p.E1264D

c.3792A>C

1 paper

NM_172232.4

p.D1260Y

c.3778G>T

1 paper

NM_172232.4

p.L1255P

c.3764T>C

1 paper

NM_172232.4

p.T1248M

c.3743C>T