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.I2023T

c.6068T>C

Surrounding Variants

9 papers

NM_000350.3

p.I2023I

c.6069T>C

1 paper

NM_000350.3

p.A2022A

c.6066A>G

5 papers

NM_000350.3

p.D2024G

c.6071A>G

1 paper

NM_000350.3

p.D2021A

c.6062A>C

1 paper

NM_000350.3

p.D2021fs

c.6061_6062fs

3 papers

NM_000350.3

p.L2026fs

c.6076_6077fs

12 papers

NM_000350.3

p.L2026P

c.6077T>C

1 paper

NM_000350.3

p.L2026fs

c.6076_6077fs

4 papers

NM_000350.3

p.L2026delFs

c.6077delA

138 papers

NM_000350.3

p.L2027F

c.6079C>T

1 paper

NM_000350.3

p.L2027P

c.6080T>C

3 papers

NM_000350.3

p.Q2019L

c.6056A>T