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.G1448delins

c.4342_4343delinsAA

Surrounding Variants

2 papers

NM_000350.3

p.G1448R

c.4342G>C

2 papers

NM_000350.3

p.G1448R

c.4342G>A

8 papers

NM_000350.3

p.W1449*

c.4346G>A

4 papers

NM_000350.3

p.E1447V

c.4340A>T

7 papers

NM_000350.3

p.W1449C

c.4347G>T

7 papers

NM_000350.3

p.W1449C

c.4347G>C

7 papers

NM_000350.3

p.W1449*

c.4347G>A

3 papers

NM_000350.3

p.P1451Splc

c.4352+1G>T

2 papers

NM_000350.3

p.P1451Splc

c.4352+1G>C

34 papers

NM_000350.3

p.P1451Splc

c.4352+1G>A

1 paper

NM_000350.3

p.P1451Splc

c.4352+2T>G

1 paper

NM_000350.3

p.P1451Splc

c.4352+2T>C