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.L1213F

c.3637C>T

Surrounding Variants

1 paper

NM_000350.3

p.L1213insFs

c.3637_3638insA

1 paper

NM_000350.3

p.L1213P

c.3638T>C

3 papers

NM_000350.3

p.V1212F

c.3634G>T

1 paper

NM_000350.3

p.V1211I

c.3631G>A

2 papers

NM_000350.3

p.H1214_H1215del1

c.3642_3644delTGG

1 paper

NM_000350.3

p.V1216delFs

c.3646delC

1 paper

NM_000350.3

p.V1216fs

c.3646_3647fs

12 papers

NM_000350.3

p.M1209T

c.3626T>C

1 paper

NM_000350.3

p.M1209L

c.3625A>T

1 paper

NM_000350.3

p.M1209L

c.3625A>C

2 papers

NM_000350.3

p.P1217R

c.3650C>G

5 papers

NM_000350.3

p.L1208R

c.3623T>G