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

3 papers

NM_000350.3

p.W273_I276delFs

c.819_826del8

Surrounding Variants

1 paper

NM_000350.3

p.I276K

c.827T>A

1 paper

NM_000350.3

p.I276V

c.826A>G

1 paper

NM_000350.3

p.L277*

c.830T>A

1 paper

NM_000350.3

p.G275E

c.824G>A

1 paper

NM_000350.3

p.G275*

c.823G>T

1 paper

NM_000350.3

p.S278fs

c.832_833fs

2 papers

NM_000350.3

p.G274A

c.821G>C

1 paper

NM_000350.3

p.S278F

c.833C>T

2 papers

NM_000350.3

p.S278C

c.833C>G

2 papers

NM_000350.3

p.S278delFs

c.832delA

2 papers

NM_000350.3

p.S278fs

c.832_833fs

1 paper

NM_000350.3

p.G274R

c.820G>A