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.G2100E

c.6299G>A

Surrounding Variants

1 paper

NM_000350.3

p.G2100fs

c.6298_6299fs

1 paper

NM_000350.3

p.M2101fs

c.6301_6302fs

2 papers

NM_000350.3

p.G2100delFs

c.6300delC

1 paper

NM_000350.3

p.D2102H

c.6304G>C

4 papers

NM_000350.3

p.D2102G

c.6305A>G

2 papers

NM_000350.3

p.D2102A

c.6305A>C

6 papers

NM_000350.3

p.D2102E

c.6306C>G

6 papers

NM_000350.3

p.D2102E

c.6306C>A

2 papers

NM_000350.3

p.P2097L

c.6290C>T

5 papers

NM_000350.3

p.P2103H

c.6308C>A

9 papers

NM_000350.3

p.P2097S

c.6289C>T

1 paper

NM_000350.3

p.E2096D

c.6288G>C