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.Y1557C

c.4670A>G

Surrounding Variants

10 papers

NM_000350.3

p.Y1557fs

c.4669_4670fs

1 paper

NM_000350.3

p.R1556S

c.4668G>T

6 papers

NM_000350.3

p.G1558R

c.4672G>C

1 paper

NM_000350.3

p.R1556S

c.4668G>C

6 papers

NM_000350.3

p.G1558R

c.4672G>A

1 paper

NM_000350.3

p.R1556Splc

c.4668-1G>T

1 paper

NM_000350.3

p.G1558delins

c.4672delinsGCTTTTT

6 papers

NM_000350.3

p.R1556T

c.4667G>C

9 papers

NM_000350.3

p.R1556Splc

c.4668-1G>A

5 papers

NM_000350.3

p.R1556Splc

c.4668-2A>G

1 paper

NM_000350.3

p.G1559*

c.4675G>T

2 papers

NM_000350.3

p.G1559E

c.4676G>A