Varaico: Literature-Extracted Genetic Variants

Gene:STRA6
Variant:p.G304delins

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
2 papers
NM_022369.4
p.G304delins
c.910_911delinsAA
Surrounding Variants
1 paper
NM_022369.4
p.G304E
c.911G>A
1 paper
NM_022369.4
p.G304R
c.910G>C
1 paper
NM_022369.4
p.G304R
c.910G>A
1 paper
NM_022369.4
p.G304delFs
c.911delC
1 paper
NM_022369.4
p.Q309_V310Splc
c.927+2T>G
13 papers
NM_022369.4
p.P293L
c.878C>T
2 papers
NM_022369.4
p.G289Splc
c.866-2A>G
5 papers
NM_022369.4
p.Q287*
c.859C>T
1 paper
NM_022369.4
p.P286delFs
c.856delG
1 paper
NM_022369.4
p.G270A
c.809G>C
1 paper
NM_022369.4
p.L255P
c.764T>C
1 paper
NM_022369.4
p.L255I
c.763C>A
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