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

1 paper

NM_000350.3

p.Q375H

c.1125G>C

Surrounding Variants

1 paper

NM_000350.3

p.Q375H

c.1125G>T

1 paper

NM_000350.3

p.A372_Q375delFs

c.1115_1125del11

1 paper

NM_000350.3

p.Q375*

c.1123C>T

1 paper

NM_000350.3

p.Q375_S376delFs

c.1125_1126delTC

2 papers

NM_000350.3

p.I374L

c.1120A>C

1 paper

NM_000350.3

p.L377L

c.1131G>A

1 paper

NM_000350.3

p.E378K

c.1132G>A

3 papers

NM_000350.3

p.L373M

c.1117T>A

1 paper

NM_000350.3

p.A372delFs

c.1116delT

1 paper

NM_000350.3

p.S379P

c.1135T>C

1 paper

NM_000350.3

p.S379T

c.1135T>A

1 paper

NM_000350.3

p.A372T

c.1114G>A