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.E2046K

c.6136G>A

Surrounding Variants

1 paper

NM_000350.3

p.E2045*

c.6133G>T

18 papers

NM_000350.3

p.I2047N

c.6140T>A

2 papers

NM_000350.3

p.Y2036_A2044insFs

c.6108_6130dup23

2 papers

NM_000350.3

p.A2044fs

c.6130_6131fs

1 paper

NM_000350.3

p.P2043insFs

c.6127_6128dupCC

3 papers

NM_000350.3

p.K2049fs

c.6145_6146fs

6 papers

NM_000350.3

p.P2043S

c.6127C>T

1 paper

NM_000350.3

p.K2049R

c.6146A>G

1 paper

NM_000350.3

p.K2049T

c.6146A>C

2 papers

NM_000350.3

p.V2042G

c.6125T>G

3 papers

NM_000350.3

p.K2049fs

c.6145_6146fs

8 papers

NM_000350.3

p.K2049K

c.6147G>A