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.R785L

c.2354G>T

Surrounding Variants

1 paper

NM_000350.3

p.R785H

c.2354G>A

5 papers

NM_000350.3

p.R785C

c.2353C>T

2 papers

NM_000350.3

p.R785G

c.2353C>G

1 paper

NM_000350.3

p.W782_D784del3

c.2344_2351del9

1 paper

NM_000350.3

p.M786fs

c.2356_2357fs

1 paper

NM_000350.3

p.Q783_M786insFs

c.2349_2356dup8

1 paper

NM_000350.3

p.Q783L

c.2348A>T

1 paper

NM_000350.3

p.Q783*

c.2347C>T

19 papers

NM_000350.3

p.W782*

c.2346G>A

19 papers

NM_000350.3

p.W782*

c.2345G>A

1 paper

NM_000350.3

p.A781T

c.2341G>A

1 paper

NM_000350.3

p.C779C

c.2337C>T