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

Selected Variant

2 papers

NM_004613.4

p.T635M

c.1904C>T

Surrounding Variants

1 paper

NM_004613.4

p.V636M

c.1906G>A

1 paper

NM_004613.4

p.E631_Q633del0

c.1893_1898del6

1 paper

NM_004613.4

p.E637V

c.1910A>T

1 paper

NM_004613.4

p.Q633K

c.1897C>A

1 paper

NM_004613.4

p.I638Splc

c.1913+1G>A

1 paper

NM_004613.4

p.E631*

c.1891G>T

1 paper

NM_004613.4

p.E631K

c.1891G>A

1 paper

NM_004613.4

p.T630S

c.1889C>G

1 paper

NM_004613.4

p.T630S

c.1888A>T

1 paper

NM_004613.4

p.G628G

c.1884C>A

1 paper

NM_004613.4

p.G628A

c.1883G>C

1 paper

NM_004613.4

p.G628C

c.1882G>T