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

8 papers

NM_000350.3

p.T1979I

c.5936C>T

Surrounding Variants

10 papers

NM_000350.3

p.K1978delFs

c.5932delT

2 papers

NM_000350.3

p.T1979A

c.5935A>G

3 papers

NM_000350.3

p.T1979fs

c.5935_5936fs

5 papers

NM_000350.3

p.T1979fs

c.5935_5936fs

1 paper

NM_000350.3

p.T1980fs

c.5938_5939fs

4 papers

NM_000350.3

p.T1980I

c.5939C>T

9 papers

NM_000350.3

p.K1978E

c.5932A>G

1 paper

NM_000350.3

p.V1973_G1977delFs

c.5918_5931del14

1 paper

NM_000350.3

p.K1978fs

c.5932_5933fs

8 papers

NM_000350.3

p.T1981R

c.5942C>G

1 paper

NM_000350.3

p.T1981K

c.5942C>A

1 paper

NM_000350.3

p.G1977C

c.5929G>T