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

15 papers

NM_000350.3

p.F1440S

c.4319T>C

Surrounding Variants

4 papers

NM_000350.3

p.F1440fs

c.4318_4319fs

3 papers

NM_000350.3

p.F1440V

c.4318T>G

4 papers

NM_000350.3

p.F1440fs

c.4318_4319fs

11 papers

NM_000350.3

p.F1440delFs

c.4320delA

2 papers

NM_000350.3

p.G1441fs

c.4321_4322fs

4 papers

NM_000350.3

p.G1439V

c.4316G>T

13 papers

NM_000350.3

p.G1439D

c.4316G>A

4 papers

NM_000350.3

p.G1441D

c.4322G>A

2 papers

NM_000350.3

p.G1441delFs

c.4322delC

3 papers

NM_000350.3

p.N1442D

c.4324A>G

1 paper

NM_000350.3

p.F1440_G1441del2

c.4318_4322del6

3 papers

NM_000350.3

p.P1438R

c.4313C>G