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.L14_E15del2

c.40_44del6

Surrounding Variants

1 paper

NM_004613.4

p.T16A

c.46A>G

1 paper

NM_004613.4

p.E15Q

c.43G>C

1 paper

NM_004613.4

p.E15K

c.43G>A

3 papers

NM_004613.4

p.N17D

c.49A>G

1 paper

NM_004613.4

p.T16_N17insFs

c.48_49insC

1 paper

NM_004613.4

p.T16del1

c.46_47delGGT

1 paper

NM_004613.4

p.L14Q

c.41T>A

2 papers

NM_004613.4

p.G18R

c.52G>C

2 papers

NM_004613.4

p.G18S

c.52G>A

1 paper

NM_004613.4

p.G18D

c.53G>A

1 paper

NM_004613.4

p.E13*

c.37G>T

1 paper

NM_004613.4

p.E13Q

c.37G>C