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

12 papers

NM_000350.3

p.Y665*

c.1995C>A

Surrounding Variants

8 papers

NM_000350.3

p.Y665*

c.1995C>G

1 paper

NM_000350.3

p.Y665fs

c.1993_1994fs

2 papers

NM_000350.3

p.Y665delFs

c.1994delT

1 paper

NM_000350.3

p.V660_Y665del6

c.1978_1994del18

1 paper

NM_000350.3

p.Y665D

c.1993T>G

1 paper

NM_000350.3

p.Y665fs

c.1993_1994fs

1 paper

NM_000350.3

p.I664T

c.1991T>C

1 paper

NM_000350.3

p.I664N

c.1991T>A

2 papers

NM_000350.3

p.V667I

c.1999G>A

1 paper

NM_000350.3

p.W663C

c.1989G>T

1 paper

NM_000350.3

p.W663C

c.1989G>C

19 papers

NM_000350.3

p.W663*

c.1989G>A