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.T16delFs

c.46_47delGT

Surrounding Variants

2 papers

NM_000350.3

p.T16T

c.48C>T

1 paper

NM_000350.3

p.W15_T16delFs

c.43_47del5

3 papers

NM_000350.3

p.N14_T16Fs

c.42_48delinsAGFs

1 paper

NM_000350.3

p.L17M

c.49C>A

1 paper

NM_000350.3

p.K13_T16del4

c.37_47del12

3 papers

NM_000350.3

p.K13_T16del0

c.38_46del9

3 papers

NM_000350.3

p.L17insFs

c.50_51insA

1 paper

NM_000350.3

p.L17P

c.50T>C

1 paper

NM_000350.3

p.T16fs

c.46_47fs

2 papers

NM_000350.3

p.W15insFs

c.44dupG

1 paper

NM_000350.3

p.W15_T16insFs

c.45_46insT

20 papers

NM_000350.3

p.W15*

c.45G>A