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.Q1523R

c.4568A>G

Surrounding Variants

7 papers

NM_000350.3

p.Q1523*

c.4567C>T

3 papers

NM_000350.3

p.D1524G

c.4571A>G

1 paper

NM_000350.3

p.L1525L

c.4573C>T

3 papers

NM_000350.3

p.L1525V

c.4573C>G

3 papers

NM_000350.3

p.L1525P

c.4574T>C

4 papers

NM_000350.3

p.I1521delFs

c.4561delT

3 papers

NM_000350.3

p.I1521fs

c.4561_4562fs

1 paper

NM_000350.3

p.I1521L

c.4561A>C

2 papers

NM_000350.3

p.T1526fs

c.4576_4577fs

1 paper

NM_000350.3

p.E1520D

c.4560A>T

3 papers

NM_000350.3

p.T1526A

c.4576A>G

1 paper

NM_000350.3

p.E1520D

c.4560A>C