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

2 papers

NM_000350.3

p.P554P

c.1662T>C

Surrounding Variants

1 paper

NM_000350.3

p.D555N

c.1663G>A

1 paper

NM_000350.3

p.P554H

c.1661C>A

1 paper

NM_000350.3

p.P554T

c.1660C>A

2 papers

NM_000350.3

p.G550_F553del0

c.1648_1659del12

4 papers

NM_000350.3

p.F553L

c.1659C>G

4 papers

NM_000350.3

p.F553L

c.1659C>A

2 papers

NM_000350.3

p.M556R

c.1667T>G

4 papers

NM_000350.3

p.F553L

c.1657T>C

1 paper

NM_000350.3

p.M556I

c.1668G>T

1 paper

NM_000350.3

p.M556I

c.1668G>C

1 paper

NM_000350.3

p.M556I

c.1668G>A

1 paper

NM_000350.3

p.Y557N

c.1669T>A