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.E207V

c.620A>T

Surrounding Variants

1 paper

NM_000350.3

p.E207G

c.620A>G

1 paper

NM_000350.3

p.S206delFs

c.617_618delGC

1 paper

NM_000350.3

p.C205_E207delFs

c.613_619del7

1 paper

NM_000350.3

p.E207*

c.619G>T

1 paper

NM_000350.3

p.K201_S206ins2

c.601_618dup18

1 paper

NM_000350.3

p.E207Q

c.619G>C

9 papers

NM_000350.3

p.E207K

c.619G>A

1 paper

NM_000350.3

p.I203_E207delFs

c.607_620del14

1 paper

NM_000350.3

p.A208T

c.622G>A

4 papers

NM_000350.3

p.S206S

c.618C>T

15 papers

NM_000350.3

p.S206R

c.618C>G

1 paper

NM_000350.3

p.S206_E207insFs

c.618_619ins8