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

2 papers

NM_000350.3

p.E1122*

c.3364G>T

Surrounding Variants

47 papers

NM_000350.3

p.E1122K

c.3364G>A

1 paper

NM_000350.3

p.E1122D

c.3366G>T

1 paper

NM_000350.3

p.E1122D

c.3366G>C

1 paper

NM_000350.3

p.A1123A

c.3369C>T

5 papers

NM_000350.3

p.D1124Y

c.3370G>T

1 paper

NM_000350.3

p.L1125H

c.3374T>A

1 paper

NM_000350.3

p.H1118Q

c.3354C>G

1 paper

NM_000350.3

p.H1118Q

c.3354C>A

9 papers

NM_000350.3

p.H1118Y

c.3352C>T

7 papers

NM_000350.3

p.H1118D

c.3352C>G

3 papers

NM_000350.3

p.L1126V

c.3376C>G

3 papers

NM_000350.3

p.L1126R

c.3377T>G