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.K1476E

c.4426A>G

Surrounding Variants

1 paper

NM_000350.3

p.K1476insFs

c.4427dupA

3 papers

NM_000350.3

p.Q1477*

c.4429C>T

1 paper

NM_000350.3

p.Q1475*

c.4423C>T

1 paper

NM_000350.3

p.L1473_F1474Fs

c.4417_4420delinsGCCTACAAFs

12 papers

NM_000350.3

p.L1473M

c.4417C>A

16 papers

NM_000350.3

p.W1479*

c.4436G>A

16 papers

NM_000350.3

p.W1479*

c.4437G>A

1 paper

NM_000350.3

p.I1470_T1471del2

c.4408_4412del6

2 papers

NM_000350.3

p.T1471A

c.4411A>G

1 paper

NM_000350.3

p.Q1481insFs

c.4442dupA

1 paper

NM_000350.3

p.V1482fs

c.4444_4445fs

1 paper

NM_000350.3

p.N1469N

c.4407C>T