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

17 papers

NM_000350.3

p.R2106H

c.6317G>A

Surrounding Variants

5 papers

NM_000350.3

p.R2106P

c.6317G>C

43 papers

NM_000350.3

p.R2106C

c.6316C>T

12 papers

NM_000350.3

p.R2107C

c.6319C>T

1 paper

NM_000350.3

p.R2107S

c.6319C>A

2 papers

NM_000350.3

p.R2107fs

c.6319_6320fs

11 papers

NM_000350.3

p.R2107P

c.6320G>C

116 papers

NM_000350.3

p.R2107H

c.6320G>A

1 paper

NM_000350.3

p.A2105delFs

c.6313delC

1 paper

NM_000350.3

p.R2107fs

c.6319_6320fs

1 paper

NM_000350.3

p.R2107delins

c.6319_6321delinsAAA

1 paper

NM_000350.3

p.A2105fs

c.6313_6314fs

5 papers

NM_000350.3

p.Q2104insFs

c.6310dupC