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

3 papers

NM_000350.3

p.W880C

c.2640G>C

Surrounding Variants

3 papers

NM_000350.3

p.W880C

c.2640G>T

3 papers

NM_000350.3

p.Y879_W880delFs

c.2637_2638delAA

1 paper

NM_000350.3

p.G866_Y879del14

c.2596_2636del42

2 papers

NM_000350.3

p.Y879*

c.2637T>G

2 papers

NM_000350.3

p.Y879*

c.2637T>A

1 paper

NM_000350.3

p.G882C

c.2644G>T

1 paper

NM_000350.3

p.Y879D

c.2635T>G

1 paper

NM_000350.3

p.G882G

c.2646C>T

1 paper

NM_000350.3

p.G882insFs

c.2646dupC

1 paper

NM_000350.3

p.G883S

c.2647G>A

2 papers

NM_000350.3

p.S878L

c.2633C>T

8 papers

NM_000350.3

p.S878*

c.2633C>A