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

2 papers

NM_000350.3

p.C230G

c.688T>G

Surrounding Variants

12 papers

NM_000350.3

p.C230S

c.688T>A

1 paper

NM_000350.3

p.C230F

c.689G>T

12 papers

NM_000350.3

p.C230S

c.689G>C

8 papers

NM_000350.3

p.L229P

c.686T>C

1 paper

NM_000350.3

p.C230W

c.690C>G

2 papers

NM_000350.3

p.C230*

c.690C>A

1 paper

NM_000350.3

p.S231insFs

c.691_692insAG

1 paper

NM_000350.3

p.S231_L232ins5

c.691_695ins15

2 papers

NM_000350.3

p.A228S

c.682G>T

2 papers

NM_000350.3

p.A228T

c.682G>A

7 papers

NM_000350.3

p.L232F

c.694C>T

1 paper

NM_000350.3

p.L232insFs

c.694_695insG