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.C1502F

c.4505G>T

Surrounding Variants

3 papers

NM_000350.3

p.C1502Y

c.4505G>A

2 papers

NM_000350.3

p.C1502G

c.4504T>G

2 papers

NM_000350.3

p.C1502R

c.4504T>C

4 papers

NM_000350.3

p.C1502C

c.4506C>T

11 papers

NM_000350.3

p.C1502*

c.4506C>A

3 papers

NM_000350.3

p.E1501D

c.4503G>T

3 papers

NM_000350.3

p.E1501D

c.4503G>C

2 papers

NM_000350.3

p.P1503L

c.4508C>T

1 paper

NM_000350.3

p.K1495_P1503delFs

c.4483_4507del25

2 papers

NM_000350.3

p.E1501*

c.4501G>T

2 papers

NM_000350.3

p.E1504K

c.4510G>A

3 papers

NM_000350.3

p.E1504fs

c.4510_4511fs