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

2 papers

NM_000350.3

p.Q1003insFs

c.3007_3008insC

Surrounding Variants

1 paper

NM_000350.3

p.Q1003R

c.3008A>G

1 paper

NM_000350.3

p.Q1003fs

c.3007_3008fs

8 papers

NM_000350.3

p.Q1003*

c.3007C>T

1 paper

NM_000350.3

p.S1004I

c.3011G>T

10 papers

NM_000350.3

p.R1002W

c.3004C>T

2 papers

NM_000350.3

p.L1005V

c.3013C>G

1 paper

NM_000350.3

p.G1006R

c.3016G>C

1 paper

NM_000350.3

p.L1005delFs

c.3015delA

1 paper

NM_000350.3

p.G1006fs

c.3016_3017fs

1 paper

NM_000350.3

p.A1000A

c.3000A>C

1 paper

NM_000350.3

p.G1006V

c.3017G>T

3 papers

NM_000350.3

p.G1006D

c.3017G>A