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

2 papers

NM_000350.3

p.C748fs

c.2242_2243fs

Surrounding Variants

1 paper

NM_000350.3

p.C748R

c.2242T>C

2 papers

NM_000350.3

p.C748Fs

c.2243delinsTTFs

1 paper

NM_000350.3

p.L747fs

c.2239_2240fs

5 papers

NM_000350.3

p.C748Y

c.2243G>A

1 paper

NM_000350.3

p.L747R

c.2240T>G

2 papers

NM_000350.3

p.L747Q

c.2240T>A

6 papers

NM_000350.3

p.L747delFs

c.2239delG

4 papers

NM_000350.3

p.L747fs

c.2239_2240fs

1 paper

NM_000350.3

p.M746delFs

c.2236_2237delAT

1 paper

NM_000350.3

p.I745_M746delFs

c.2234_2237del4

1 paper

NM_000350.3

p.M746K

c.2237T>A

4 papers

NM_000350.3

p.L750P

c.2249T>C