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.E51Q

c.151G>C

Surrounding Variants

1 paper

NM_004613.4

p.E51V

c.152A>T

1 paper

NM_004613.4

p.Y50F

c.149A>T

1 paper

NM_004613.4

p.Y50C

c.149A>G

1 paper

NM_004613.4

p.A52T

c.154G>A

2 papers

NM_004613.4

p.R48H

c.143G>A

1 paper

NM_004613.4

p.R48C

c.142C>T

1 paper

NM_004613.4

p.E46K

c.136G>A

1 paper

NM_004613.4

p.S56G

c.166A>G

1 paper

NM_004613.4

p.S56insFs

c.167_168insC

1 paper

NM_004613.4

p.H44P

c.131A>C

1 paper

NM_004613.4

p.H44N

c.130C>A

1 paper

NM_004613.4

p.T58S

c.172A>T