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.L31_V32insFs

c.93_94insT

Surrounding Variants

1 paper

NM_004613.4

p.V32insFs

c.94_95insT

2 papers

NM_004613.4

p.V33G

c.98T>G

1 paper

NM_004613.4

p.R34Q

c.101G>A

2 papers

NM_004613.4

p.R28L

c.83G>T

1 paper

NM_004613.4

p.R28Q

c.83G>A

1 paper

NM_004613.4

p.R35W

c.103C>T

1 paper

NM_004613.4

p.R35Q

c.104G>A

1 paper

NM_004613.4

p.R28W

c.82C>T

1 paper

NM_004613.4

p.R35R

c.105G>C

1 paper

NM_004613.4

p.G36C

c.106G>T

1 paper

NM_004613.4

p.Q37L

c.110A>T

1 paper

NM_004613.4

p.Q37P

c.110A>C