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

6 papers

NM_000350.3

p.L1729P

c.5186T>C

Surrounding Variants

10 papers

NM_000350.3

p.W1730*

c.5189G>A

10 papers

NM_000350.3

p.W1730*

c.5190G>A

1 paper

NM_000350.3

p.D1731N

c.5191G>A

1 paper

NM_000350.3

p.N1727D

c.5179A>G

1 paper

NM_000350.3

p.T1726fs

c.5176_5177fs

1 paper

NM_000350.3

p.T1726I

c.5177C>T

11 papers

NM_000350.3

p.T1726N

c.5177C>A

7 papers

NM_000350.3

p.T1726fs

c.5176_5177fs

8 papers

NM_000350.3

p.V1725insFs

c.5175dupG

8 papers

NM_000350.3

p.I1732_M1733Splc

c.5196+1G>T

59 papers

NM_000350.3

p.I1732_M1733Splc

c.5196+1G>A

4 papers

NM_000350.3

p.I1732_M1733Splc

c.5196+2T>G