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

9 papers

NM_000350.3

p.I1775N

c.5324T>A

Surrounding Variants

1 paper

NM_000350.3

p.I1775F

c.5323A>T

20 papers

NM_000350.3

p.P1776L

c.5327C>T

1 paper

NM_000350.3

p.A1773delFs

c.5318delG

13 papers

NM_000350.3

p.M1777L

c.5329A>T

4 papers

NM_000350.3

p.M1777V

c.5329A>G

12 papers

NM_000350.3

p.M1777L

c.5329A>C

1 paper

NM_000350.3

p.M1777T

c.5330T>C

78 papers

NM_000350.3

p.A1773V

c.5318C>T

8 papers

NM_000350.3

p.A1773E

c.5318C>A

1 paper

NM_000350.3

p.A1773S

c.5317G>T

2 papers

NM_000350.3

p.A1773insFs

c.5317_5318insA

2 papers

NM_000350.3

p.A1773fs

c.5317_5318fs