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

9 papers

NM_000350.3

p.G1183C

c.3547G>T

Surrounding Variants

1 paper

NM_000350.3

p.G1183D

c.3548G>A

1 paper

NM_000350.3

p.F1184L

c.3550T>C

2 papers

NM_000350.3

p.K1182fs

c.3544_3545fs

3 papers

NM_000350.3

p.S1181delFs

c.3543delA

1 paper

NM_000350.3

p.S1181fs

c.3541_3542fs

1 paper

NM_000350.3

p.S1181F

c.3542C>T

2 papers

NM_000350.3

p.F1184L

c.3552C>G

1 paper

NM_000350.3

p.F1184L

c.3552C>A

1 paper

NM_000350.3

p.S1185A

c.3553T>G

1 paper

NM_000350.3

p.S1181fs

c.3541_3542fs

1 paper

NM_000350.3

p.S1180fs

c.3538_3539fs

2 papers

NM_000350.3

p.S1180S

c.3540G>A