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.L132M

c.394C>A

Surrounding Variants

1 paper

NM_004613.4

p.V131M

c.391G>A

1 paper

NM_004613.4

p.G133G

c.399C>T

1 paper

NM_004613.4

p.S129N

c.386G>A

1 paper

NM_004613.4

p.S128A

c.382T>G

2 papers

NM_004613.4

p.L137F

c.411G>T

2 papers

NM_004613.4

p.L137F

c.411G>C

1 paper

NM_004613.4

p.Q126*

c.376C>T

1 paper

NM_004613.4

p.L138V

c.412C>G

1 paper

NM_004613.4

p.G124D

c.371G>A

1 paper

NM_004613.4

p.F139F

c.417C>T

1 paper

NM_004613.4

p.G124R

c.370G>C

1 paper

NM_004613.4

p.A141S

c.421G>T