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.M637fs

c.1909_1910fs

Surrounding Variants

1 paper

NM_000350.3

p.M637K

c.1910T>A

9 papers

NM_000350.3

p.Q636H

c.1908G>T

9 papers

NM_000350.3

p.Q636H

c.1908G>C

1 paper

NM_000350.3

p.Q636Q

c.1908G>A

1 paper

NM_000350.3

p.Q636P

c.1907A>C

30 papers

NM_000350.3

p.Q636*

c.1906C>T

4 papers

NM_000350.3

p.P638S

c.1912C>T

11 papers

NM_000350.3

p.Q636K

c.1906C>A

1 paper

NM_000350.3

p.Q635H

c.1905G>T

1 paper

NM_000350.3

p.Q635H

c.1905G>C

4 papers

NM_000350.3

p.P638L

c.1913C>T

4 papers

NM_000350.3

p.Q625_P638del0

c.1874_1912del39