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

3 papers

NM_000350.3

p.L1126R

c.3377T>G

Surrounding Variants

9 papers

NM_000350.3

p.L1126P

c.3377T>C

2 papers

NM_000350.3

p.L1126H

c.3377T>A

3 papers

NM_000350.3

p.L1126V

c.3376C>G

3 papers

NM_000350.3

p.G1127R

c.3379G>C

3 papers

NM_000350.3

p.G1127R

c.3379G>A

1 paper

NM_000350.3

p.L1125_L1126del2

c.3373_3377del6

1 paper

NM_000350.3

p.L1125H

c.3374T>A

9 papers

NM_000350.3

p.G1127E

c.3380G>A

1 paper

NM_000350.3

p.D1128Y

c.3382G>T

7 papers

NM_000350.3

p.D1128G

c.3383A>G

5 papers

NM_000350.3

p.D1124Y

c.3370G>T

35 papers

NM_000350.3

p.R1129C

c.3385C>T