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.K2158E

c.6472A>G

Surrounding Variants

1 paper

NM_000350.3

p.K2158Q

c.6472A>C

1 paper

NM_000350.3

p.L2157delFs

c.6471delG

1 paper

NM_000350.3

p.K2158fs

c.6472_6473fs

1 paper

NM_000350.3

p.H2156Y

c.6466C>T

11 papers

NM_000350.3

p.K2160E

c.6478A>G

1 paper

NM_000350.3

p.K2160R

c.6479A>G

1 paper

NM_000350.3

p.K2160Splc

c.6479+1G>T

12 papers

NM_000350.3

p.K2160Splc

c.6479+1G>C

14 papers

NM_000350.3

p.K2160Splc

c.6479+1G>A

1 paper

NM_000350.3

p.K2160Splc

c.6479+2T>G

4 papers

NM_000350.3

p.K2160Splc

c.6479+2T>C

1 paper

NM_000350.3

p.K2160Splc

c.6479+2T>A