Varaico: Literature-Extracted Genetic Variants

Gene:STRA6
Variant:p.P90L

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
10 papers
NM_022369.4
p.P90L
c.269C>T
Surrounding Variants
1 paper
NM_022369.4
p.P90S
c.268C>T
1 paper
NM_022369.4
p.F93insFs
c.277_278insC
1 paper
NM_022369.4
p.F93insFs
c.277_278insCC
1 paper
NM_022369.4
p.L94L
c.282G>A
2 papers
NM_022369.4
p.A104T
c.310G>A
2 papers
NM_022369.4
p.L111L
c.331C>T
1 paper
NM_022369.4
p.L111Q
c.332T>A
2 papers
NM_022369.4
p.C115fs
c.343_344fs
1 paper
NM_022369.4
p.P119P
c.357C>T
1 paper
NM_022369.4
p.P119delFs
c.357delG
1 paper
NM_022369.4
p.P133T
c.397C>A
2 papers
NM_001199042.2
p.D175Splc
c.523+5C>T
NM_022369.4
p.D136Splc
c.406+5C>T
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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."