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.L100F

c.298C>T

Surrounding Variants

1 paper

NM_004613.4

p.T99I

c.296C>T

1 paper

NM_004613.4

p.S101L

c.302C>T

1 paper

NM_004613.4

p.C98Y

c.293G>A

1 paper

NM_004613.4

p.D97A

c.290A>C

1 paper

NM_004613.4

p.Q103L

c.308A>T

1 paper

NM_004613.4

p.Q103R

c.308A>G

1 paper

NM_004613.4

p.L104P

c.311T>C

1 paper

NM_004613.4

p.L104_T105delFs

c.312_313delTG

1 paper

NM_004613.4

p.D94A

c.281A>C

2 papers

NM_004613.4

p.T106I

c.317C>T

1 paper

NM_004613.4

p.V93G

c.278T>G

1 paper

NM_004613.4

p.V93_D94insT

c.277_281ins3