Varaico: Literature-Extracted Genetic Variants

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.C74_F76del3

c.220_227del9

Surrounding Variants

1 paper

NM_016192.4

p.E79K

c.235G>A

1 paper

NM_016192.4

p.C80Y

c.239G>A

1 paper

NM_016192.4

p.D65Y

c.193G>T

1 paper

NM_016192.4

p.L45*

c.134T>G

1 paper

NM_016192.4

p.L45*

c.134T>A

1 paper

NM_016192.4

p.R34L

c.101G>T

2 papers

NM_016192.4

p.V32I

c.94G>A

2 papers

NM_016192.4

p.L25del1

c.73_74delCAG

1 paper

NM_016192.4

p.L15_C16insFs

c.45_46insT

1 paper

NM_016192.4

p.C10G

c.28T>G

1 paper

NM_016192.4

p.M1I

c.3G>C

1 paper

NM_016192.4

p.N97fs

c.289_290fs