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.Q957R

c.2870A>G

Surrounding Variants

1 paper

NM_000350.3

p.Q957P

c.2870A>C

1 paper

NM_000350.3

p.Q957*

c.2869C>T

3 papers

NM_000350.3

p.Q957K

c.2869C>A

3 papers

NM_000350.3

p.N956K

c.2868C>G

3 papers

NM_000350.3

p.N956K

c.2868C>A

1 paper

NM_000350.3

p.I958N

c.2873T>A

1 paper

NM_000350.3

p.N956I

c.2867A>T

1 paper

NM_000350.3

p.N956T

c.2867A>C

1 paper

NM_000350.3

p.I958I

c.2874C>A

1 paper

NM_000350.3

p.E955E

c.2865G>A

4 papers

NM_000350.3

p.T959S

c.2875A>T

13 papers

NM_000350.3

p.T959A

c.2875A>G