Varaico: Literature-Extracted Genetic Variants

Gene:STRA6
Variant:p.D17_Y18Fs

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
7 papers
NM_022369.4
p.D17_Y18Fs
c.50_52delinsCCFs
Surrounding Variants
2 papers
NM_022369.4
p.Y18insFs
c.52_53ins4
3 papers
NM_022369.4
p.Y18fs
c.52_53fs
1 paper
NM_022369.4
p.D17delins
c.51delinsT
1 paper
NM_022369.4
p.Y18delFs
c.52delA
3 papers
NM_022369.4
p.Y18*
c.54C>G
3 papers
NM_022369.4
p.Y18*
c.54C>A
4 papers
NM_022369.4
p.D17A
c.50A>C
3 papers
NM_022369.4
p.D17fs
c.49_50fs
1 paper
NM_022369.4
p.D17_Y18del1
c.50_52delAGT
1 paper
NM_022369.4
p.Y20F
c.59A>T
2 papers
NM_022369.4
p.G13fs
c.37_38fs
6 papers
NM_022369.4
p.W23*
c.68G>A
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