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

32 papers

NM_000350.3

p.E1022K

c.3064G>A

Surrounding Variants

1 paper

NM_000350.3

p.E1022*

c.3064G>T

1 paper

NM_000350.3

p.A1021A

c.3063T>G

8 papers

NM_000350.3

p.E1022G

c.3065A>G

1 paper

NM_000350.3

p.E1022_H1023delFs

c.3066_3067delGC

1 paper

NM_000350.3

p.V1020insFs

c.3058dupG

1 paper

NM_000350.3

p.V1020A

c.3059T>C

1 paper

NM_000350.3

p.V1020E

c.3059T>A

2 papers

NM_000350.3

p.H1023insFs

c.3068_3069insA

1 paper

NM_000350.3

p.V1020fs

c.3058_3059fs

1 paper

NM_000350.3

p.M1024R

c.3071T>G

1 paper

NM_000350.3

p.M1024T

c.3071T>C

1 paper

NM_000350.3

p.M1024K

c.3071T>A