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

2 papers

NM_000350.3

p.F873fs

c.2617_2618fs

Surrounding Variants

9 papers

NM_000350.3

p.F873L

c.2617T>C

3 papers

NM_000350.3

p.F873I

c.2617T>A

3 papers

NM_000350.3

p.Y872delFs

c.2616delG

1 paper

NM_000350.3

p.F873C

c.2618T>G

3 papers

NM_000350.3

p.Y872_F873delFs

c.2616_2617delAG

6 papers

NM_000350.3

p.Y872*

c.2616C>G

1 paper

NM_000350.3

p.Y872fs

c.2614_2615fs

5 papers

NM_000350.3

p.Y872*

c.2616C>A

9 papers

NM_000350.3

p.F873L

c.2619T>G

9 papers

NM_000350.3

p.F873L

c.2619T>A

2 papers

NM_000350.3

p.L874fs

c.2620_2621fs

6 papers

NM_000350.3

p.W871*

c.2613G>A