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.I1130delFs

c.3388_3389delAT

Surrounding Variants

8 papers

NM_000350.3

p.I1130T

c.3389T>C

3 papers

NM_000350.3

p.A1131fs

c.3391_3392fs

1 paper

NM_000350.3

p.A1131G

c.3392C>G

1 paper

NM_000350.3

p.A1131A

c.3393C>G

1 paper

NM_000350.3

p.A1131fs

c.3391_3392fs

5 papers

NM_000350.3

p.A1131Fs

c.3392_3393delinsGFs

119 papers

NM_000350.3

p.R1129L

c.3386G>T

9 papers

NM_000350.3

p.R1129H

c.3386G>A

2 papers

NM_000350.3

p.I1132fs

c.3394_3395fs

5 papers

NM_000350.3

p.A1131delFs

c.3392delG

2 papers

NM_000350.3

p.I1132T

c.3395T>C

35 papers

NM_000350.3

p.R1129C

c.3385C>T