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

1 paper

NM_000350.3

p.D1956fs

c.5866_5867fs

Surrounding Variants

1 paper

NM_000350.3

p.V1955M

c.5863G>A

1 paper

NM_000350.3

p.R1957R

c.5871G>A

1 paper

NM_000350.3

p.D1956_R1957delFs

c.5867_5870del4

1 paper

NM_000350.3

p.L1958P

c.5873T>C

3 papers

NM_000350.3

p.P1953delFs

c.5858delG

1 paper

NM_000350.3

p.P1953R

c.5858C>G

1 paper

NM_000350.3

p.R1957_L1958del2

c.5869_5873del6

2 papers

NM_000350.3

p.P1953fs

c.5857_5858fs

1 paper

NM_000350.3

p.S1952R

c.5856C>G

1 paper

NM_000350.3

p.S1952R

c.5856C>A

1 paper

NM_000350.3

p.C1959*

c.5877T>A

1 paper

NM_000350.3

p.S1952R

c.5854A>C