Varaico: Literature-Extracted Genetic Variants

Gene:STEEP1
Variant:p.R55W

STEEP1

18 papers

RefSeq Summary

While this gene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding different isoforms have been found fo...

Pfam Domains

STEEP1aa 21–130UCSCSTEEP1 domain

Gene Aliases

HGNC Name

STING1 ER exit protein 1

HGNC Previous Symbol

CXorf56

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022101.4
p.R55W
c.163C>T
Surrounding Variants
1 paper
NM_022101.4
p.D54A
c.161A>C
2 papers
NM_022101.4
p.R53_D54insFs
c.159_160insTA
1 paper
NM_022101.4
p.V58A
c.173T>C
1 paper
NM_022101.4
p.R51K
c.152G>A
1 paper
NM_022101.4
p.A61A
c.183T>A
1 paper
NM_022101.4
p.K63R
c.188A>G
1 paper
NM_022101.4
p.Y31*
c.93C>A
1 paper
NM_022101.4
p.K25Q
c.73A>C
1 paper
NM_022101.4
p.G23R
c.67G>C
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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."