Varaico: Literature-Extracted Genetic Variants

TGM2

438 papers

RefSeq Summary

Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all ...

Pfam Domains

Transglut_Naa 8–122UCSCTransglutaminase family

Transglut_coreaa 260–359UCSCTransglutaminase-like superfamily

Transglut_Caa 473–573UCSCTransglutaminase family, C-terminal ig like domain

Transglut_Caa 587–686UCSCTransglutaminase family, C-terminal ig like domain

Gene Aliases

HGNC Name

transglutaminase 2

HGNC Alias Symbols

TGC; TG2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 620 variants

18 papers

NM_004613.4

p.C277S

c.829T>A

18 papers

NM_004613.4

p.C277S

c.830G>C

10 papers

NM_004613.4

p.N333S

c.998A>G

9 papers

NM_004613.4

p.M330R

c.989T>G

8 papers

NM_004613.4

p.I331N

c.992T>A

4 papers

NM_004613.4

p.G72R

c.214G>A

4 papers

NM_004613.4

p.R76H

c.227G>A

4 papers

NM_004613.4

p.I167V

c.499A>G

4 papers

NM_004613.4

p.R214H

c.641G>A

4 papers

NM_004613.4

p.V272I

c.814G>A

4 papers

NM_004613.4

p.C620R

c.1858T>C

3 papers

NM_004613.4

p.L12P

c.35T>C