Varaico: Literature-Extracted Genetic Variants

Gene:STRA6
Variant:p.L315P

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.L315P
c.944T>C
Surrounding Variants
1 paper
NM_022369.4
p.V318E
c.953T>A
1 paper
NM_022369.4
p.V319E
c.956T>A
11 papers
NM_022369.4
p.T321P
c.961A>C
1 paper
NM_022369.4
p.Q309_V310Splc
c.928-11G>A
1 paper
NM_022369.4
p.R326K
c.977G>A
1 paper
NM_022369.4
p.T331A
c.991A>G
4 papers
NM_022369.4
p.G339S
c.1015G>A
5 papers
NM_022369.4
p.V364Splc
c.1090+1G>A
1 paper
NM_022369.4
p.Q309_V310Splc
c.927+2T>G
1 paper
NM_022369.4
p.G304delFs
c.911delC
1 paper
NM_022369.4
p.G304E
c.911G>A
2 papers
NM_022369.4
p.G304delins
c.910_911delinsAA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."