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

4 papers

NM_000350.3

p.Q1713K

c.5137C>A

Surrounding Variants

1 paper

NM_000350.3

p.Q1713*

c.5137C>T

1 paper

NM_000350.3

p.Q1713E

c.5137C>G

5 papers

NM_000350.3

p.Q1713R

c.5138A>G

2 papers

NM_000350.3

p.Q1713delins

c.5137_5138delinsAG

1 paper

NM_000350.3

p.F1714S

c.5141T>C

1 paper

NM_000350.3

p.H1711Y

c.5131C>T

2 papers

NM_000350.3

p.K1710Q

c.5128A>C

2 papers

NM_000350.3

p.G1717*

c.5149G>T

3 papers

NM_000350.3

p.V1718G

c.5153T>G

1 paper

NM_000350.3

p.N1707K

c.5121C>G

1 paper

NM_000350.3

p.N1707K

c.5121C>A

2 papers

NM_000350.3

p.V1706delFs

c.5116delC