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

7 papers

NM_000350.3

p.K2172R

c.6515A>G

Surrounding Variants

1 paper

NM_000350.3

p.S2173fs

c.6517_6518fs

1 paper

NM_000350.3

p.P2174P

c.6522G>A

1 paper

NM_000350.3

p.K2175fs

c.6523_6524fs

1 paper

NM_000350.3

p.K2175*

c.6523A>T

1 paper

NM_000350.3

p.V2167_T2168del2

c.6499_6503del6

69 papers

NM_000350.3

p.D2177N

c.6529G>A

1 paper

NM_000350.3

p.V2167D

c.6500T>A

2 papers

NM_000350.3

p.S2173_D2177delFs

c.6519_6529del11

1 paper

NM_000350.3

p.V2167I

c.6499G>A

3 papers

NM_000350.3

p.I2166I

c.6498C>T

10 papers

NM_000350.3

p.I2166M

c.6498C>G

1 paper

NM_000350.3

p.I2166V

c.6496A>G