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.Q324E

c.970C>G

Surrounding Variants

2 papers

NM_004613.4

p.Q324R

c.971A>G

1 paper

NM_004613.4

p.G325S

c.973G>A

1 paper

NM_004613.4

p.I323L

c.967A>C

1 paper

NM_004613.4

p.E322D

c.966G>T

1 paper

NM_004613.4

p.E322fs

c.964_965fs

1 paper

NM_004613.4

p.G325A

c.974G>C

1 paper

NM_004613.4

p.E322D

c.966G>C

1 paper

NM_004613.4

p.G325D

c.974G>A

2 papers

NM_004613.4

p.G321insFs

c.961_962insG

1 paper

NM_004613.4

p.D326N

c.976G>A

1 paper

NM_004613.4

p.D326A

c.977A>C

1 paper

NM_004613.4

p.D326E

c.978C>G