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.C2017F

c.6050G>T

Surrounding Variants

5 papers

NM_000350.3

p.C2017Y

c.6050G>A

2 papers

NM_000350.3

p.C2017R

c.6049T>C

1 paper

NM_000350.3

p.S2008_C2017del10

c.6022_6050del30

1 paper

NM_000350.3

p.Q2019E

c.6055C>G

1 paper

NM_000350.3

p.G2015delins

c.6044delinsC

4 papers

NM_000350.3

p.H2011_G2015Fs

c.6031_6044delinsAGTATTTAACCAATATTTFs

1 paper

NM_000350.3

p.H2011_G2015Fs

c.6031_6044delinsAGTATTTAACFs

1 paper

NM_000350.3

p.H2011_G2015Fs

c.6031_6044delinsAGTATTTAAFs

3 papers

NM_000350.3

p.Q2019L

c.6056A>T

2 papers

NM_000350.3

p.M2014T

c.6041T>C

1 paper

NM_000350.3

p.M2014V

c.6040A>G

1 paper

NM_000350.3

p.Q2012_N2013del2

c.6034_6038del6