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.E363A

c.1088A>C

Surrounding Variants

2 papers

NM_004613.4

p.E366K

c.1096G>A

1 paper

NM_004613.4

p.T360M

c.1079C>T

1 paper

NM_004613.4

p.D358delFs

c.1074delG

1 paper

NM_004613.4

p.D358E

c.1074C>G

1 paper

NM_004613.4

p.D358E

c.1074C>A

2 papers

NM_004613.4

p.G353V

c.1058G>T

1 paper

NM_004613.4

p.E352Q

c.1054G>C

1 paper

NM_004613.4

p.E352K

c.1054G>A

1 paper

NM_004613.4

p.P349L

c.1046C>T

1 paper

NM_004613.4

p.Q348insFs

c.1043_1044dupAG

1 paper

NM_004613.4

p.D346E

c.1038C>G

1 paper

NM_004613.4

p.D346E

c.1038C>A