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

8 papers

NM_000350.3

p.S1099P

c.3295T>C

Surrounding Variants

5 papers

NM_000350.3

p.S1099*

c.3296C>G

4 papers

NM_000350.3

p.S1099*

c.3296C>A

49 papers

NM_000350.3

p.R1098C

c.3292C>T

6 papers

NM_000350.3

p.I1100T

c.3299T>C

7 papers

NM_000350.3

p.I1100N

c.3299T>A

4 papers

NM_000350.3

p.R1097S

c.3291A>T

4 papers

NM_000350.3

p.R1097S

c.3291A>C

15 papers

NM_000350.3

p.R1097*

c.3289A>T

4 papers

NM_000350.3

p.R1097G

c.3289A>G

7 papers

NM_000350.3

p.W1101*

c.3302G>A

1 paper

NM_000350.3

p.S1096delFs

c.3286_3287delGA

7 papers

NM_000350.3

p.W1101*

c.3303G>A