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.G275A

c.824G>C

Surrounding Variants

1 paper

NM_004613.4

p.G275V

c.824G>T

18 papers

NM_004613.4

p.C277S

c.829T>A

18 papers

NM_004613.4

p.C277S

c.830G>C

1 paper

NM_004613.4

p.G268_V272del0

c.802_816del15

1 paper

NM_004613.4

p.V272G

c.815T>G

1 paper

NM_004613.4

p.W278L

c.833G>T

4 papers

NM_004613.4

p.V272I

c.814G>A

1 paper

NM_004613.4

p.R271H

c.812G>A

1 paper

NM_004613.4

p.F280S

c.839T>C

1 paper

NM_004613.4

p.Q270P

c.809A>C

1 paper

NM_004613.4

p.A282T

c.844G>A

1 paper

NM_004613.4

p.A282insFs

c.845_846insC