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.L2125P

c.6374T>C

Surrounding Variants

1 paper

NM_000350.3

p.T2126A

c.6376A>G

2 papers

NM_000350.3

p.S2127F

c.6380C>T

1 paper

NM_000350.3

p.H2128Y

c.6382C>T

9 papers

NM_000350.3

p.H2128R

c.6383A>G

1 paper

NM_000350.3

p.H2128Q

c.6384C>G

1 paper

NM_000350.3

p.H2128Q

c.6384C>A

1 paper

NM_000350.3

p.S2129fs

c.6385_6386fs

9 papers

NM_000350.3

p.S2129G

c.6385A>G

1 paper

NM_000350.3

p.S2129N

c.6386G>A

10 papers

NM_000350.3

p.S2129Splc

c.6386+1G>A

1 paper

NM_000350.3

p.G2120G

c.6360G>T

17 papers

NM_000350.3

p.S2129Splc

c.6386+2C>G