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

5 papers

NM_000350.3

p.N99insFs

c.296dupA

Surrounding Variants

1 paper

NM_000350.3

p.N99N

c.297C>T

1 paper

NM_000350.3

p.N99K

c.297C>G

2 papers

NM_000350.3

p.N99fs

c.295_296fs

1 paper

NM_000350.3

p.N99K

c.297C>A

1 paper

NM_000350.3

p.S100A

c.298T>G

9 papers

NM_000350.3

p.S100P

c.298T>C

1 paper

NM_000350.3

p.N99S

c.296A>G

1 paper

NM_000350.3

p.S100F

c.299C>T

4 papers

NM_000350.3

p.S100Y

c.299C>A

2 papers

NM_000350.3

p.N99fs

c.295_296fs

4 papers

NM_000350.3

p.N98K

c.294C>G

5 papers

NM_000350.3

p.N98K

c.294C>A