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

16 papers

NM_000350.3

p.L988L

c.2964C>T

Surrounding Variants

2 papers

NM_000350.3

p.L988P

c.2963T>C

2 papers

NM_000350.3

p.V989I

c.2965G>A

50 papers

NM_000350.3

p.V989A

c.2966T>C

1 paper

NM_000350.3

p.V989D

c.2966T>A

2 papers

NM_000350.3

p.V987G

c.2960T>G

2 papers

NM_000350.3

p.V989insFs

c.2967dupT

1 paper

NM_000350.3

p.G990R

c.2968G>A

1 paper

NM_000350.3

p.G990fs

c.2968_2969fs

2 papers

NM_000350.3

p.V987M

c.2959G>A

1 paper

NM_000350.3

p.G990fs

c.2968_2969fs

1 paper

NM_000350.3

p.G990G

c.2970G>A

5 papers

NM_000350.3

p.G991*

c.2971G>T