Varaico: Literature-Extracted Genetic Variants

TGM5

188 papers

RefSeq Summary

This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of pro...

Pfam Domains

Transglut_Naa 8–122UCSCTransglutaminase family

Transglut_coreaa 252–361UCSCTransglutaminase-like superfamily

Transglut_Caa 507–606UCSCTransglutaminase family, C-terminal ig like domain

Transglut_Caa 620–718UCSCTransglutaminase family, C-terminal ig like domain

Gene Aliases

HGNC Name

transglutaminase 5

HGNC Alias Symbols

TGX; TGMX

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_201631.4

p.V273M

c.817G>A

Surrounding Variants

1 paper

NM_201631.4

p.G276R

c.826G>C

1 paper

NM_201631.4

p.G276R

c.826G>A

1 paper

NM_201631.4

p.W265_N266del1

c.794_796delTCC

1 paper

NM_201631.4

p.A282T

c.844G>A

1 paper

NM_201631.4

p.Q264*

c.790C>T

1 paper

NM_201631.4

p.A283V

c.848C>T

3 papers

NM_201631.4

p.V284I

c.850G>A

1 paper

NM_201631.4

p.S258delFs

c.773delC

1 paper

NM_201631.4

p.S258fs

c.772_773fs

1 paper

NM_201631.4

p.V288Splc

c.862+1G>T

1 paper

NM_201631.4

p.T256M

c.767C>T

10 papers

NM_201631.4

p.W255R

c.763T>C