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.E1271E

c.3813G>A

Surrounding Variants

13 papers

NM_000350.3

p.E1271D

c.3813G>T

18 papers

NM_000350.3

p.E1271D

c.3813G>C

1 paper

NM_000350.3

p.E1271delFs

c.3812delT

2 papers

NM_000350.3

p.E1271_I1272Splc

c.3813+1G>T

3 papers

NM_000350.3

p.E1271_I1272Splc

c.3813+1G>A

10 papers

NM_000350.3

p.E1271G

c.3812A>G

2 papers

NM_000350.3

p.E1271Q

c.3811G>C

1 paper

NM_000350.3

p.E1271fs

c.3811_3812fs

11 papers

NM_000350.3

p.E1270*

c.3808G>T

3 papers

NM_000350.3

p.L1269P

c.3806T>C

2 papers

NM_000350.3

p.E1271_I1272Splc

c.3813+9G>C

1 paper

NM_000350.3

p.T1267A

c.3799A>G