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.E4E

c.12G>A

Surrounding Variants

2 papers

NM_004613.4

p.E4D

c.12G>C

1 paper

NM_004613.4

p.L5L

c.13C>T

1 paper

NM_004613.4

p.L5Q

c.14T>A

1 paper

NM_004613.4

p.E4Splc

c.11-1G>A

1 paper

NM_004613.4

p.V6L

c.16G>C

1 paper

NM_004613.4

p.L5delFs

c.14_15delCA

1 paper

NM_004613.4

p.V6A

c.17T>C

1 paper

NM_004613.4

p.V6delFs

c.16delC

1 paper

NM_004613.4

p.V6V

c.18C>A

1 paper

NM_004613.4

p.L7*

c.20T>A

1 paper

NM_004613.4

p.R9S

c.27G>T

1 paper

NM_004613.4

p.R9S

c.27G>C