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.L2058R

c.6173T>G

Surrounding Variants

1 paper

NM_000350.3

p.L2058V

c.6172C>G

4 papers

NM_000350.3

p.G2059A

c.6176G>C

2 papers

NM_000350.3

p.G2059D

c.6176G>A

12 papers

NM_000350.3

p.L2060R

c.6179T>G

1 paper

NM_000350.3

p.L2060P

c.6179T>C

10 papers

NM_000350.3

p.K2056*

c.6166A>T

6 papers

NM_000350.3

p.T2061fs

c.6181_6182fs

1 paper

NM_000350.3

p.T2061delFs

c.6181delT

3 papers

NM_000350.3

p.V2062fs

c.6184_6185fs

7 papers

NM_000350.3

p.T2061_V2062delFs

c.6181_6184del4

1 paper

NM_000350.3

p.V2062fs

c.6184_6185fs

3 papers

NM_000350.3

p.Y2063_A2064insA

c.6187_6191ins3