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.Q1897*

c.5689C>T

Surrounding Variants

8 papers

NM_000350.3

p.V1896D

c.5687T>A

5 papers

NM_000350.3

p.Q1897H

c.5691G>T

3 papers

NM_000350.3

p.Q1897H

c.5691G>C

2 papers

NM_000350.3

p.L1895delFs

c.5684_5685delCA

12 papers

NM_000350.3

p.R1898C

c.5692C>T

52 papers

NM_000350.3

p.R1898H

c.5693G>A

2 papers

NM_000350.3

p.L1895fs

c.5683_5684fs

31 papers

NM_000350.3

p.L1894L

c.5682G>C

1 paper

NM_000350.3

p.T1893_L1894delFs

c.5677_5681del5

2 papers

NM_000350.3

p.F1900L

c.5698T>C

2 papers

NM_000350.3

p.F1900L

c.5700C>G

2 papers

NM_000350.3

p.F1900L

c.5700C>A