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

50 papers

NM_000350.3

p.Q2220*

c.6658C>T

Surrounding Variants

1 paper

NM_000350.3

p.L2221P

c.6662T>C

1 paper

NM_000350.3

p.L2223fs

c.6667_6668fs

1 paper

NM_000350.3

p.L2223insFs

c.6667dupC

13 papers

NM_000350.3

p.A2216V

c.6647C>T

5 papers

NM_000350.3

p.S2214_L2223insFs

c.6642_6669dup28

1 paper

NM_000350.3

p.L2223_S2224insFs

c.6669_6670ins28

3 papers

NM_000350.3

p.S2224fs

c.6670_6671fs

1 paper

NM_000350.3

p.S2224delFs

c.6670delA

1 paper

NM_000350.3

p.L2215P

c.6644T>C

2 papers

NM_000350.3

p.S2212fs

c.6634_6635fs

2 papers

NM_000350.3

p.S2211F

c.6632C>T

7 papers

NM_000350.3

p.L2229P

c.6686T>C