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

4 papers

NM_004613.4

p.R214H

c.641G>A

Surrounding Variants

1 paper

NM_004613.4

p.R214delFs

c.640delG

1 paper

NM_004613.4

p.S215T

c.644G>C

2 papers

NM_004613.4

p.R213C

c.637C>T

1 paper

NM_004613.4

p.D210_C211del2

c.628_632del6

1 paper

NM_004613.4

p.V218A

c.653T>C

1 paper

NM_004613.4

p.D210H

c.628G>C

1 paper

NM_004613.4

p.D210N

c.628G>A

1 paper

NM_004613.4

p.R209H

c.626G>A

2 papers

NM_004613.4

p.R209C

c.625C>T

1 paper

NM_004613.4

p.V220M

c.658G>A

1 paper

NM_004613.4

p.G208D

c.623G>A

1 paper

NM_004613.4

p.G208S

c.622G>A