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

19 papers

NM_000350.3

p.Q876*

c.2626C>T

Surrounding Variants

3 papers

NM_000350.3

p.Q876ins1

c.2626_2627insTTT

2 papers

NM_000350.3

p.Q876P

c.2627A>C

2 papers

NM_000350.3

p.L875_Q876ins1

c.2625_2626insTTT

1 paper

NM_000350.3

p.L875P

c.2624T>C

1 paper

NM_000350.3

p.E877K

c.2629G>A

2 papers

NM_000350.3

p.L874fs

c.2620_2621fs

9 papers

NM_000350.3

p.F873L

c.2619T>G

9 papers

NM_000350.3

p.F873L

c.2619T>A

2 papers

NM_000350.3

p.S878L

c.2633C>T

8 papers

NM_000350.3

p.S878*

c.2633C>A

1 paper

NM_000350.3

p.F873C

c.2618T>G

3 papers

NM_000350.3

p.Y872_F873delFs

c.2616_2617delAG