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.I385T

c.1154T>C

Surrounding Variants

1 paper

NM_000350.3

p.K384delFs

c.1150_1151delTT

3 papers

NM_000350.3

p.I385I

c.1155C>T

2 papers

NM_000350.3

p.A386S

c.1156G>T

2 papers

NM_000350.3

p.A386T

c.1156G>A

1 paper

NM_000350.3

p.K384R

c.1151A>G

2 papers

NM_000350.3

p.K384E

c.1150A>G

7 papers

NM_000350.3

p.T383delFs

c.1148delG

2 papers

NM_000350.3

p.T383fs

c.1147_1148fs

1 paper

NM_000350.3

p.W387*

c.1160G>A

1 paper

NM_000350.3

p.T383I

c.1148C>T

2 papers

NM_000350.3

p.T383delFs

c.1147delT

2 papers

NM_000350.3

p.W387*

c.1161G>A