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

5 papers

NM_000350.3

p.T1721fs

c.5161_5162fs

Surrounding Variants

5 papers

NM_000350.3

p.T1721fs

c.5161_5162fs

14 papers

NM_000350.3

p.T1721delFs

c.5161_5162delGT

1 paper

NM_000350.3

p.G1717_S1719del3

c.5149_5156del9

3 papers

NM_000350.3

p.Y1723H

c.5167T>C

1 paper

NM_000350.3

p.Y1723C

c.5168A>G

3 papers

NM_000350.3

p.V1718G

c.5153T>G

7 papers

NM_000350.3

p.Y1723*

c.5169C>G

7 papers

NM_000350.3

p.Y1723*

c.5169C>A

4 papers

NM_000350.3

p.W1724R

c.5170T>C

4 papers

NM_000350.3

p.W1724R

c.5170T>A

1 paper

NM_000350.3

p.Y1723delFs

c.5169delG

2 papers

NM_000350.3

p.T1722_Y1723del2

c.5164_5168del6