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

8 papers

NM_000350.3

p.L2140R

c.6419T>G

Surrounding Variants

10 papers

NM_000350.3

p.L2140Q

c.6419T>A

11 papers

NM_000350.3

p.R2139P

c.6416G>C

7 papers

NM_000350.3

p.R2139Q

c.6416G>A

14 papers

NM_000350.3

p.R2139W

c.6415C>T

13 papers

NM_000350.3

p.I2142V

c.6424A>G

2 papers

NM_000350.3

p.I2142M

c.6426C>G

4 papers

NM_000350.3

p.C2137*

c.6411T>A

1 paper

NM_000350.3

p.M2143R

c.6428T>G

4 papers

NM_000350.3

p.M2143K

c.6428T>A

24 papers

NM_000350.3

p.C2137Y

c.6410G>A

1 paper

NM_000350.3

p.M2143I

c.6429G>T

1 paper

NM_000350.3

p.M2143I

c.6429G>C