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

5 papers

NM_000350.3

p.H1017Splc

c.3051-1G>A

Surrounding Variants

1 paper

NM_000350.3

p.H1017Splc

c.3051-1G>C

3 papers

NM_000350.3

p.H1017Splc

c.3051-2A>G

8 papers

NM_000350.3

p.L1018fs

c.3052_3053fs

9 papers

NM_000350.3

p.T1019A

c.3055A>G

66 papers

NM_000350.3

p.T1019M

c.3056C>T

1 paper

NM_000350.3

p.V1020fs

c.3058_3059fs

1 paper

NM_000350.3

p.V1020insFs

c.3058dupG

1 paper

NM_000350.3

p.V1020A

c.3059T>C

1 paper

NM_000350.3

p.V1020E

c.3059T>A

1 paper

NM_000350.3

p.A1021A

c.3063T>G

3 papers

NM_000350.3

p.H1017Splc

c.3051-14T>A

1 paper

NM_000350.3

p.E1022*

c.3064G>T