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

2 papers

NM_000350.3

p.W1408fs

c.4222_4223fs

Surrounding Variants

43 papers

NM_000350.3

p.W1408R

c.4222T>C

40 papers

NM_000350.3

p.W1408R

c.4222T>A

5 papers

NM_000350.3

p.W1408L

c.4223G>T

6 papers

NM_000350.3

p.W1408*

c.4223G>A

4 papers

NM_000350.3

p.W1408delFs

c.4222delA

6 papers

NM_000350.3

p.W1408C

c.4224G>T

2 papers

NM_000350.3

p.W1408fs

c.4222_4223fs

6 papers

NM_000350.3

p.W1408C

c.4224G>C

6 papers

NM_000350.3

p.W1408*

c.4224G>A

3 papers

NM_000350.3

p.P1407L

c.4220C>T

9 papers

NM_000350.3

p.I1409V

c.4225A>G

1 paper

NM_000350.3

p.H1406delFs

c.4217delT