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

3 papers

NM_000350.3

p.E1087Q

c.3259G>C

Surrounding Variants

6 papers

NM_000350.3

p.E1087*

c.3259G>T

88 papers

NM_000350.3

p.E1087K

c.3259G>A

1 paper

NM_000350.3

p.L1085_D1086del2

c.3253_3257del6

7 papers

NM_000350.3

p.E1087G

c.3260A>G

22 papers

NM_000350.3

p.E1087D

c.3261A>T

23 papers

NM_000350.3

p.E1087D

c.3261A>C

3 papers

NM_000350.3

p.P1088S

c.3262C>T

7 papers

NM_000350.3

p.P1088T

c.3262C>A

1 paper

NM_000350.3

p.P1088P

c.3264C>T

1 paper

NM_000350.3

p.T1089fs

c.3265_3266fs

1 paper

NM_000350.3

p.P1088delFs

c.3264delG

1 paper

NM_000350.3

p.I1084M

c.3252T>G