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.I1571N

c.4712T>A

Surrounding Variants

3 papers

NM_000350.3

p.I1571delFs

c.4711delT

1 paper

NM_000350.3

p.P1570_I1571del1

c.4709_4711delTGG

3 papers

NM_000350.3

p.I1571fs

c.4711_4712fs

5 papers

NM_000350.3

p.P1570delFs

c.4710delG

1 paper

NM_000350.3

p.P1570fs

c.4708_4709fs

12 papers

NM_000350.3

p.T1572M

c.4715C>T

2 papers

NM_000350.3

p.P1570L

c.4709C>T

2 papers

NM_000350.3

p.V1569delFs

c.4706delA

1 paper

NM_000350.3

p.T1572_G1573insFs

c.4715_4718dup4

2 papers

NM_000350.3

p.V1569fs

c.4705_4706fs

15 papers

NM_000350.3

p.E1574*

c.4720G>T

2 papers

NM_000350.3

p.E1574fs

c.4720_4721fs