Varaico: Literature-Extracted Genetic Variants

Gene:STRA6
Variant:p.P579A

STRA6

127 papers

RefSeq Summary

The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes...

Pfam Domains

RBP_receptoraa 41–657UCSCRetinol binding protein receptor

Gene Aliases

HGNC Name

signaling receptor and transporter of retinol STRA6

HGNC Alias Symbols

SLC69A1; FLJ12541

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022369.4
p.P579A
c.1735C>G
Surrounding Variants
1 paper
NM_022369.4
p.S575_Q576del2
c.1723_1727del6
4 papers
NM_022369.4
p.R567*
c.1699C>T
6 papers
NM_022369.4
p.Q592*
c.1774C>T
1 paper
NM_022369.4
p.T565T
c.1695G>T
1 paper
NM_022369.4
p.Y564Y
c.1692C>T
1 paper
NM_022369.4
p.G562S
c.1684G>A
1 paper
NM_022369.4
p.A600T
c.1798G>A
1 paper
NM_022369.4
p.A601A
c.1803C>T
1 paper
NM_022369.4
p.Q603*
c.1807C>T
2 papers
NM_022369.4
p.G562Splc
c.1685-24T>C
1 paper
NM_022369.4
p.E613K
c.1837G>A
1 paper
NM_022369.4
p.G614Splc
c.1840+5G>A
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