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

9 papers

NM_000350.3

p.P2097S

c.6289C>T

Surrounding Variants

1 paper

NM_000350.3

p.E2096D

c.6288G>C

2 papers

NM_000350.3

p.P2097L

c.6290C>T

1 paper

NM_000350.3

p.E2096V

c.6287A>T

3 papers

NM_000350.3

p.E2096G

c.6287A>G

3 papers

NM_000350.3

p.E2096Q

c.6286G>C

27 papers

NM_000350.3

p.E2096K

c.6286G>A

20 papers

NM_000350.3

p.D2095D

c.6285T>C

9 papers

NM_000350.3

p.D2095V

c.6284A>T

1 paper

NM_000350.3

p.D2095G

c.6284A>G

2 papers

NM_000350.3

p.D2095fs

c.6283_6284fs

1 paper

NM_000350.3

p.D2095H

c.6283G>C

1 paper

NM_000350.3

p.D2095N

c.6283G>A