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.T1655T

c.4965C>G

Surrounding Variants

1 paper

NM_000350.3

p.T1655I

c.4964C>T

1 paper

NM_000350.3

p.G1653insFs

c.4957dupG

4 papers

NM_000350.3

p.G1653E

c.4958G>A

4 papers

NM_000350.3

p.S1658R

c.4972A>C

2 papers

NM_000350.3

p.G1653R

c.4957G>C

3 papers

NM_000350.3

p.G1653R

c.4957G>A

12 papers

NM_000350.3

p.Y1652*

c.4956T>G

10 papers

NM_000350.3

p.Y1652*

c.4956T>A

4 papers

NM_000350.3

p.S1658R

c.4974C>G

4 papers

NM_000350.3

p.S1658R

c.4974C>A

1 paper

NM_000350.3

p.Q1659K

c.4975C>A

1 paper

NM_000350.3

p.R1647_S1658del12

c.4939_4973del36