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

1 paper

NM_004613.4

p.C620S

c.1858T>A

Surrounding Variants

4 papers

NM_004613.4

p.C620R

c.1858T>C

1 paper

NM_004613.4

p.C620S

c.1859G>C

3 papers

NM_004613.4

p.C620Y

c.1859G>A

1 paper

NM_004613.4

p.G619D

c.1856G>A

1 paper

NM_004613.4

p.C620W

c.1860C>G

1 paper

NM_004613.4

p.C620*

c.1860C>A

1 paper

NM_004613.4

p.T621A

c.1861A>G

1 paper

NM_004613.4

p.C620del1

c.1858_1859delGCA

1 paper

NM_004613.4

p.E618A

c.1853A>C

1 paper

NM_004613.4

p.F622L

c.1864T>C

1 paper

NM_004613.4

p.F622L

c.1866C>G

1 paper

NM_004613.4

p.F622L

c.1866C>A