Varaico: Literature-Extracted Genetic Variants

Gene:STRA6
Variant:p.M527_V528insG

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
3 papers
NM_022369.4
p.M527_V528insG
c.1579_1583ins3
Surrounding Variants
2 papers
NM_022369.4
p.M527I
c.1581G>A
2 papers
NM_022369.4
p.R532*
c.1594C>T
1 paper
NM_022369.4
p.S536F
c.1607C>T
1 paper
NM_022369.4
p.L517F
c.1549C>T
1 paper
NM_022369.4
p.N540N
c.1620C>T
3 papers
NM_022369.4
p.R507Splc
c.1521-1G>A
2 papers
NM_022369.4
p.P554delFs
c.1662delC
1 paper
NM_022369.4
p.R555fs
c.1663_1664fs
1 paper
NM_022369.4
p.A556P
c.1666G>C
7 papers
NM_022369.4
p.D560H
c.1678G>C
2 papers
NM_022369.4
p.G562S
c.1684G>A
3 papers
NM_022369.4
p.G562Splc
c.1684+1G>A
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