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

5 papers

NM_000350.3

p.N415S

c.1244A>G

Surrounding Variants

2 papers

NM_000350.3

p.N415T

c.1244A>C

5 papers

NM_000350.3

p.N415K

c.1245C>G

5 papers

NM_000350.3

p.N415K

c.1245C>A

1 paper

NM_000350.3

p.N415D

c.1243A>G

1 paper

NM_000350.3

p.A414T

c.1240G>A

1 paper

NM_000350.3

p.N413_A414Splc

c.1240-1G>T

1 paper

NM_000350.3

p.N413_A414Splc

c.1240-1G>C

2 papers

NM_000350.3

p.N413_A414Splc

c.1240-1G>A

3 papers

NM_000350.3

p.T417A

c.1249A>G

2 papers

NM_000350.3

p.T417P

c.1249A>C

1 paper

NM_000350.3

p.N413_A414Splc

c.1240-2A>T

5 papers

NM_000350.3

p.N413_A414Splc

c.1240-2A>G