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.N1636Y

c.4906A>T

Surrounding Variants

3 papers

NM_000350.3

p.V1633_N1636delFs

c.4897_4906del10

3 papers

NM_000350.3

p.L1627_H1635ins3

c.4880_4903dup24

3 papers

NM_000350.3

p.A1637T

c.4909G>A

1 paper

NM_000350.3

p.A1634T

c.4900G>A

1 paper

NM_000350.3

p.V1633_A1634ins4

c.4897_4901ins12

3 papers

NM_000350.3

p.V1633fs

c.4897_4898fs

2 papers

NM_000350.3

p.N1632insFs

c.4895dupA

2 papers

NM_000350.3

p.L1639*

c.4916T>G

2 papers

NM_000350.3

p.L1639*

c.4916T>A

2 papers

NM_000350.3

p.N1632fs

c.4894_4895fs

84 papers

NM_000350.3

p.R1640W

c.4918C>T

64 papers

NM_000350.3

p.R1640Q

c.4919G>A