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

6 papers

NM_000350.3

p.F1416L

c.4248C>G

Surrounding Variants

6 papers

NM_000350.3

p.F1416L

c.4248C>A

6 papers

NM_000350.3

p.F1416L

c.4246T>C

2 papers

NM_000350.3

p.S1418fs

c.4252_4253fs

1 paper

NM_000350.3

p.T1415insFs

c.4243dupA

11 papers

NM_000350.3

p.F1417del1

c.4249_4250delGAA

1 paper

NM_000350.3

p.T1415fs

c.4243_4244fs

6 papers

NM_000350.3

p.T1415P

c.4243A>C

1 paper

NM_000350.3

p.S1418Splc

c.4253+1G>T

2 papers

NM_000350.3

p.Y1414_S1418delFs

c.4240_4253del14

1 paper

NM_000350.3

p.Q1413H

c.4239G>T

1 paper

NM_000350.3

p.Q1413H

c.4239G>C

50 papers

NM_000350.3

p.S1418Splc

c.4253+4C>T