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.S152A

c.454T>G

Surrounding Variants

1 paper

NM_004613.4

p.S152L

c.455C>T

1 paper

NM_004613.4

p.D151A

c.452A>C

1 paper

NM_004613.4

p.D151Y

c.451G>T

1 paper

NM_004613.4

p.E153K

c.457G>A

1 paper

NM_004613.4

p.E153E

c.459A>G

1 paper

NM_004613.4

p.E154A

c.461A>C

1 paper

NM_004613.4

p.E155K

c.463G>A

1 paper

NM_004613.4

p.E155A

c.464A>C

2 papers

NM_004613.4

p.R156Q

c.467G>A

1 paper

NM_004613.4

p.A147T

c.439G>A

1 paper

NM_004613.4

p.D146V

c.437A>T

1 paper

NM_004613.4

p.E158G

c.473A>G