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

32 papers

NM_000350.3

p.V675I

c.2023G>A

Surrounding Variants

2 papers

NM_000350.3

p.S673fs

c.2017_2018fs

1 paper

NM_000350.3

p.K672insFs

c.2015dupA

1 paper

NM_000350.3

p.K672E

c.2014A>G

1 paper

NM_000350.3

p.V671delFs

c.2012_2013delCA

1 paper

NM_000350.3

p.S668_V671del4

c.2002_2012del12

2 papers

NM_000350.3

p.S673_E677delFs

c.2019_2031del13

8 papers

NM_000350.3

p.K678N

c.2034G>T

7 papers

NM_000350.3

p.K678N

c.2034G>C

1 paper

NM_000350.3

p.V671fs

c.2011_2012fs

2 papers

NM_000350.3

p.K678del1

c.2032_2034delCTT

10 papers

NM_000350.3

p.S666_K678del13

c.1996_2033del39

1 paper

NM_000350.3

p.E679V

c.2036A>T