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

31 papers

NM_000350.3

p.S1696N

c.5087G>A

Surrounding Variants

1 paper

NM_000350.3

p.S1696I

c.5087G>T

8 papers

NM_000350.3

p.S1696R

c.5088C>G

8 papers

NM_000350.3

p.S1696R

c.5088C>A

8 papers

NM_000350.3

p.S1696R

c.5086A>C

1 paper

NM_000350.3

p.S1696del1

c.5086_5087delGCT

1 paper

NM_000350.3

p.V1682_S1696del0

c.5044_5088del45

4 papers

NM_000350.3

p.A1695D

c.5084C>A

4 papers

NM_000350.3

p.V1698F

c.5092G>T

1 paper

NM_000350.3

p.L1699fs

c.5095_5096fs

1 paper

NM_000350.3

p.L1699delFs

c.5095delG

17 papers

NM_000350.3

p.V1693I

c.5077G>A

5 papers

NM_000350.3

p.Y1700*

c.5100T>G