Varaico: Literature-Extracted Genetic Variants

Gene:TMEFF2
Variant:p.C206Y

TMEFF2

51 papers

RefSeq Summary

This gene encodes a member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene and a tumor suppressor depending on the cellular context and...

Pfam Domains

Kazal_2aa 90–135UCSCKazal-type serine protease inhibitor domain
Kazal_2aa 181–227UCSCKazal-type serine protease inhibitor domain

Gene Aliases

HGNC Name

transmembrane protein with EGF like and two follistatin like domains 2

HGNC Alias Symbols

TENB2; HPP1; TR; TPEF; CT120.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016192.4
p.C206Y
c.617G>A
Surrounding Variants
2 papers
NM_016192.4
p.A211E
c.632C>A
1 paper
NM_016192.4
p.G199R
c.595G>A
1 paper
NM_016192.4
p.K218T
c.653A>C
1 paper
NM_016192.4
p.E220K
c.658G>A
1 paper
NM_016192.4
p.D239N
c.715G>A
1 paper
NM_016192.4
p.E249Splc
c.745+87G>A
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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."