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

27 papers

NM_000350.3

p.F418S

c.1253T>C

Surrounding Variants

3 papers

NM_000350.3

p.F418L

c.1254T>G

3 papers

NM_000350.3

p.F418L

c.1252T>C

3 papers

NM_000350.3

p.F418L

c.1254T>A

1 paper

NM_000350.3

p.T417delFs

c.1250delG

2 papers

NM_000350.3

p.E419*

c.1255G>T

3 papers

NM_000350.3

p.T417A

c.1249A>G

2 papers

NM_000350.3

p.T417P

c.1249A>C

1 paper

NM_000350.3

p.E420*

c.1258G>T

1 paper

NM_000350.3

p.E420K

c.1258G>A

1 paper

NM_000350.3

p.E420delFs

c.1258delC

1 paper

NM_000350.3

p.E419_E420delFs

c.1255_1258del4

5 papers

NM_000350.3

p.N415K

c.1245C>G