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

3 papers

NM_000350.3

p.S795fs

c.2383_2384fs

Surrounding Variants

8 papers

NM_000350.3

p.S795R

c.2383A>C

2 papers

NM_000350.3

p.S795I

c.2384G>T

1 paper

NM_000350.3

p.V794_S795Splc

c.2383-1G>T

2 papers

NM_000350.3

p.V794_S795Splc

c.2383-1G>C

4 papers

NM_000350.3

p.S795N

c.2384G>A

3 papers

NM_000350.3

p.V794_S795Splc

c.2383-1G>A

2 papers

NM_000350.3

p.S795S

c.2385C>T

8 papers

NM_000350.3

p.S795R

c.2385C>G

1 paper

NM_000350.3

p.S795fs

c.2383_2384fs

8 papers

NM_000350.3

p.S795R

c.2385C>A

1 paper

NM_000350.3

p.V794_S795Splc

c.2383-2A>G

7 papers

NM_000350.3

p.L797P

c.2390T>C