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.M330T

c.989T>C

Surrounding Variants

9 papers

NM_004613.4

p.M330R

c.989T>G

1 paper

NM_004613.4

p.I331T

c.992T>C

8 papers

NM_004613.4

p.I331N

c.992T>A

1 paper

NM_004613.4

p.E329A

c.986A>C

1 paper

NM_004613.4

p.E329K

c.985G>A

1 paper

NM_004613.4

p.S328R

c.984C>G

1 paper

NM_004613.4

p.S328R

c.984C>A

1 paper

NM_004613.4

p.S328G

c.982A>G

1 paper

NM_004613.4

p.S328R

c.982A>C

1 paper

NM_004613.4

p.W332Splc

c.995+5G>A

1 paper

NM_004613.4

p.D326E

c.978C>G

1 paper

NM_004613.4

p.D326E

c.978C>A