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

15 papers

NM_000350.3

p.P940R

c.2819C>G

Surrounding Variants

1 paper

NM_000350.3

p.E939D

c.2817G>T

1 paper

NM_000350.3

p.C941C

c.2823T>C

6 papers

NM_000350.3

p.E939*

c.2815G>T

2 papers

NM_000350.3

p.E939K

c.2815G>A

1 paper

NM_000350.3

p.E939fs

c.2815_2816fs

1 paper

NM_000350.3

p.G942fs

c.2824_2825fs

12 papers

NM_000350.3

p.F938S

c.2813T>C

1 paper

NM_000350.3

p.G942G

c.2826C>T

1 paper

NM_000350.3

p.G942G

c.2826C>A

15 papers

NM_000350.3

p.R943W

c.2827C>T

1 paper

NM_000350.3

p.R943G

c.2827C>G

1 paper

NM_000350.3

p.I937N

c.2810T>A