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.G1203Splc

c.3608-2A>G

Surrounding Variants

2 papers

NM_000350.3

p.G1203W

c.3607G>T

14 papers

NM_000350.3

p.G1203R

c.3607G>C

13 papers

NM_000350.3

p.G1203R

c.3607G>A

24 papers

NM_000350.3

p.G1203E

c.3608G>A

9 papers

NM_000350.3

p.G1203fs

c.3607_3608fs

9 papers

NM_000350.3

p.D1204N

c.3610G>A

5 papers

NM_000350.3

p.G1203Splc

c.3608-7G>A

1 paper

NM_000350.3

p.D1204delFs

c.3610delC

1 paper

NM_000350.3

p.V1205I

c.3613G>A

5 papers

NM_000350.3

p.N1206fs

c.3616_3617fs

6 papers

NM_000350.3

p.N1206delFs

c.3617delT

5 papers

NM_000350.3

p.L1208R

c.3623T>G