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

3 papers

NM_000350.3

p.T401P

c.1201A>C

Surrounding Variants

1 paper

NM_000350.3

p.T401S

c.1201A>T

1 paper

NM_000350.3

p.T401_P402insN

c.1201_1205ins3

1 paper

NM_000350.3

p.T401I

c.1202C>T

1 paper

NM_000350.3

p.T401S

c.1202C>G

1 paper

NM_000350.3

p.Y400H

c.1198T>C

2 papers

NM_000350.3

p.P402S

c.1204C>T

8 papers

NM_000350.3

p.P402A

c.1204C>G

1 paper

NM_000350.3

p.P402_D403insN

c.1204_1208ins3

2 papers

NM_000350.3

p.L399delFs

c.1196delA

1 paper

NM_000350.3

p.P402L

c.1205C>T

1 paper

NM_000350.3

p.P402fs

c.1204_1205fs

1 paper

NM_000350.3

p.L399P

c.1196T>C