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.K2160Splc

c.6480-3T>C

Surrounding Variants

8 papers

NM_000350.3

p.K2160E

c.6478A>G

3 papers

NM_000350.3

p.K2160Splc

c.6480-1G>T

1 paper

NM_000350.3

p.K2160R

c.6479A>G

16 papers

NM_000350.3

p.F2161fs

c.6481_6482fs

1 paper

NM_000350.3

p.Y2165C

c.6494A>G

1 paper

NM_000350.3

p.I2166V

c.6496A>G

3 papers

NM_000350.3

p.I2166I

c.6498C>T

10 papers

NM_000350.3

p.I2166M

c.6498C>G

1 paper

NM_000350.3

p.V2167I

c.6499G>A

1 paper

NM_000350.3

p.V2167D

c.6500T>A

1 paper

NM_000350.3

p.V2167_T2168del2

c.6499_6503del6

3 papers

NM_000350.3

p.K2160Splc

c.6480-35A>G