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.Y1095*

c.3285C>A

Surrounding Variants

3 papers

NM_000350.3

p.Y1095Y

c.3285C>T

1 paper

NM_000350.3

p.Y1095*

c.3285C>G

1 paper

NM_000350.3

p.S1096P

c.3286T>C

1 paper

NM_000350.3

p.S1096fs

c.3286_3287fs

1 paper

NM_000350.3

p.Y1095delFs

c.3283delA

20 papers

NM_000350.3

p.S1096L

c.3287C>T

1 paper

NM_000350.3

p.Y1095fs

c.3283_3284fs

1 paper

NM_000350.3

p.P1094fs

c.3280_3281fs

1 paper

NM_000350.3

p.P1094delFs

c.3281delG

1 paper

NM_000350.3

p.S1096delFs

c.3286_3287delGA

6 papers

NM_000350.3

p.P1094R

c.3281C>G

15 papers

NM_000350.3

p.R1097*

c.3289A>T