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

1 paper

NM_000350.3

p.V424V

c.1272T>A

Surrounding Variants

2 papers

NM_000350.3

p.V424A

c.1271T>C

1 paper

NM_000350.3

p.V424L

c.1270G>C

2 papers

NM_000350.3

p.V424I

c.1270G>A

1 paper

NM_000350.3

p.R425S

c.1275G>T

1 paper

NM_000350.3

p.R425S

c.1275G>C

22 papers

NM_000350.3

p.H423H

c.1269C>T

63 papers

NM_000350.3

p.H423R

c.1268A>G

5 papers

NM_000350.3

p.H423P

c.1268A>C

3 papers

NM_000350.3

p.H423Y

c.1267C>T

1 paper

NM_000350.3

p.K426delFs

c.1276delT

1 paper

NM_000350.3

p.E422K

c.1264G>A

1 paper

NM_000350.3

p.L421L

c.1263G>A