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

5 papers

NM_000350.3

p.Q2209*

c.6625C>T

Surrounding Variants

2 papers

NM_000350.3

p.Q2207*

c.6619C>T

2 papers

NM_000350.3

p.S2211F

c.6632C>T

1 paper

NM_000350.3

p.L2206H

c.6617T>A

1 paper

NM_000350.3

p.L2206F

c.6616C>T

2 papers

NM_000350.3

p.S2212fs

c.6634_6635fs

1 paper

NM_000350.3

p.M2205R

c.6614T>G

1 paper

NM_000350.3

p.H2202_M2205delFs

c.6606_6613del8

1 paper

NM_000350.3

p.N2204N

c.6612C>T

7 papers

NM_000350.3

p.Y2203*

c.6609C>G

7 papers

NM_000350.3

p.Y2203*

c.6609C>A

1 paper

NM_000350.3

p.P2194_H2202del9

c.6580_6605del27

1 paper

NM_000350.3

p.Y2203fs

c.6607_6608fs