Varaico: Literature-Extracted Genetic Variants

ABCA4

1,730 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 608–856UCSCABC-2 family transporter protein

ABC_tranaa 946–1090UCSCABC transporter

ABC2_membrane_3aa 1597–1895UCSCABC-2 family transporter protein

ABC_tranaa 1955–2099UCSCABC transporter

R1_ABCA1aa 2162–2238UCSCABCA1-like, C-terminal R1 regulatory domain

Gene Aliases

HGNC Name

ATP binding cassette subfamily A member 4

HGNC Previous Symbols

STGD1; ABCR; RP19; STGD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

17 papers

NM_000350.3

p.T1537M

c.4610C>T

Surrounding Variants

4 papers

NM_000350.3

p.T1537delFs

c.4609delT

1 paper

NM_000350.3

p.T1537fs

c.4609_4610fs

4 papers

NM_000350.3

p.T1537T

c.4611G>A

5 papers

NM_000350.3

p.T1537fs

c.4609_4610fs

1 paper

NM_000350.3

p.Y1538fs

c.4612_4613fs

2 papers

NM_000350.3

p.Y1538F

c.4613A>T

1 paper

NM_000350.3

p.Y1538*

c.4614T>G

1 paper

NM_000350.3

p.Y1538*

c.4614T>A

1 paper

NM_000350.3

p.K1536*

c.4606A>T

1 paper

NM_000350.3

p.P1539fs

c.4615_4616fs

2 papers

NM_000350.3

p.P1539T

c.4615C>A

4 papers

NM_000350.3

p.V1535insFs

c.4604dupT