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.G1398fs

c.4192_4193fs

Surrounding Variants

2 papers

NM_000350.3

p.V1393_G1398del0

c.4178_4192del15

1 paper

NM_000350.3

p.G1398G

c.4194C>T

1 paper

NM_000350.3

p.G1398delFs

c.4193delC

7 papers

NM_000350.3

p.E1399*

c.4195G>T

17 papers

NM_000350.3

p.E1399K

c.4195G>A

1 paper

NM_000350.3

p.P1396L

c.4187C>T

2 papers

NM_000350.3

p.P1395L

c.4184C>T

10 papers

NM_000350.3

p.Y1400*

c.4200C>G

10 papers

NM_000350.3

p.Y1400*

c.4200C>A

1 paper

NM_000350.3

p.P1401A

c.4201C>G

1 paper

NM_000350.3

p.P1401H

c.4202C>A

2 papers

NM_000350.3

p.P1401P

c.4203C>T