Varaico: Literature-Extracted Genetic Variants

Gene:EPSTI1

EPSTI1

35 papers

RefSeq Summary

The protein encoded by this gene has been shown to promote tumor invasion and metastasis in some invasive cancer cells when overexpressed. Expression of this gene has been shown to be upregulated by d...

Pfam Domains

EPSTI1aa 69–298UCSCEpithelial-stromal interaction protein 1

Gene Aliases

HGNC Name

epithelial stromal interaction 1

HGNC Alias Symbols

BRESI1; MGC29634

Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
1 paper
NM_033255.5
p.M1T
c.2T>C
1 paper
NM_033255.5
p.P16S
c.46C>T
1 paper
NM_033255.5
p.G43R
c.127G>C
1 paper
NM_033255.5
p.Q61R
c.182A>G
1 paper
NM_033255.5
p.R82G
c.244A>G
1 paper
NM_033255.5
p.R99K
c.296G>A
1 paper
NM_033255.5
p.L105V
c.313C>G
1 paper
NM_033255.5
p.R109W
c.325C>T
1 paper
NM_033255.5
p.R109Q
c.326G>A
1 paper
NM_033255.5
p.G111Splc
c.332-4T>A
1 paper
NM_033255.5
p.G112fs
c.334_335fs
1 paper
NM_033255.5
p.T117I
c.350C>T
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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."