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

4 papers

NM_000350.3

p.A538V

c.1613C>T

Surrounding Variants

4 papers

NM_000350.3

p.A538D

c.1613C>A

6 papers

NM_000350.3

p.A538A

c.1614C>T

1 paper

NM_000350.3

p.R537_A538delFs

c.1610_1613del4

3 papers

NM_000350.3

p.L539V

c.1615C>G

2 papers

NM_000350.3

p.L539fs

c.1615_1616fs

2 papers

NM_000350.3

p.L539delFs

c.1615delG

1 paper

NM_000350.3

p.A538delFs

c.1613_1614delGG

18 papers

NM_000350.3

p.R537H

c.1610G>A

26 papers

NM_000350.3

p.R537C

c.1609C>T

1 paper

NM_000350.3

p.S540fs

c.1618_1619fs

1 paper

NM_000350.3

p.L541L

c.1621C>T

1 paper

NM_000350.3

p.L541V

c.1621C>G