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.E1704G

c.5111A>G

Surrounding Variants

2 papers

NM_000350.3

p.E1704delFs

c.5110delC

1 paper

NM_000350.3

p.E1704fs

c.5110_5111fs

1 paper

NM_000350.3

p.E1704K

c.5110G>A

1 paper

NM_000350.3

p.E1704fs

c.5110_5111fs

17 papers

NM_000350.3

p.R1705W

c.5113C>T

10 papers

NM_000350.3

p.R1705L

c.5114G>T

14 papers

NM_000350.3

p.R1705Q

c.5114G>A

2 papers

NM_000350.3

p.Q1703E

c.5107C>G

3 papers

NM_000350.3

p.Q1703K

c.5107C>A

2 papers

NM_000350.3

p.V1706L

c.5116G>T

2 papers

NM_000350.3

p.V1706L

c.5116G>C

2 papers

NM_000350.3

p.V1706delFs

c.5116delC