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

1 paper

NM_000350.3

p.T1497S

c.4490C>G

Surrounding Variants

1 paper

NM_000350.3

p.T1497S

c.4489A>T

2 papers

NM_000350.3

p.L1499P

c.4496T>C

1 paper

NM_000350.3

p.M1498_L1499del2

c.4492_4496del6

1 paper

NM_000350.3

p.E1494*

c.4480G>T

1 paper

NM_000350.3

p.E1494K

c.4480G>A

1 paper

NM_000350.3

p.P1500P

c.4500A>G

2 papers

NM_000350.3

p.E1501*

c.4501G>T

3 papers

NM_000350.3

p.E1501D

c.4503G>T

3 papers

NM_000350.3

p.E1501D

c.4503G>C

2 papers

NM_000350.3

p.C1502G

c.4504T>G

2 papers

NM_000350.3

p.C1502R

c.4504T>C

2 papers

NM_000350.3

p.C1502F

c.4505G>T