Varaico: Literature-Extracted Genetic Variants

Gene:STRA6
Variant:p.E140Q

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.E140Q
c.418G>C
Surrounding Variants
1 paper
NM_022369.4
p.G137E
c.410G>A
1 paper
NM_001142619.2
p.D127Splc
c.380-9A>T
1 paper
NM_022369.4
p.G144Splc
c.430+24T>A
1 paper
NM_022369.4
p.G144Splc
c.431-37C>T
1 paper
NM_022369.4
p.G144Splc
c.431-2A>G
1 paper
NM_022369.4
p.A145V
c.434C>T
1 paper
NM_022369.4
p.A145fs
c.433_434fs
2 papers
NM_022369.4
p.W146*
c.437G>A
2 papers
NM_022369.4
p.W146*
c.438G>A
1 paper
NM_022369.4
p.A145_K147del3
c.433_440del9
1 paper
NM_022369.4
p.A155delFs
c.464delG
1 paper
NM_022369.4
p.D136Splc
c.406+111A>G
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