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.V1083E

c.3248T>A

Surrounding Variants

1 paper

NM_000350.3

p.V1083A

c.3248T>C

2 papers

NM_000350.3

p.V1083M

c.3247G>A

2 papers

NM_000350.3

p.I1084T

c.3251T>C

1 paper

NM_000350.3

p.I1084M

c.3252T>G

1 paper

NM_000350.3

p.V1082L

c.3244G>T

1 paper

NM_000350.3

p.V1082L

c.3244G>C

3 papers

NM_000350.3

p.K1081N

c.3243G>T

3 papers

NM_000350.3

p.K1081N

c.3243G>C

2 papers

NM_000350.3

p.K1081K

c.3243G>A

1 paper

NM_000350.3

p.K1081E

c.3241A>G

1 paper

NM_000350.3

p.A1073_D1079insFs

c.3218_3236dup19

2 papers

NM_000350.3

p.D1079D

c.3237T>C