Varaico: Literature-Extracted Genetic Variants

TGM3

88 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 7–118UCSCTransglutaminase family

Transglut_coreaa 239–355UCSCTransglutaminase-like superfamily

Transglut_Caa 483–588UCSCTransglutaminase family, C-terminal ig like domain

Transglut_Caa 595–693UCSCTransglutaminase family, C-terminal ig like domain

Gene Aliases

HGNC Name

transglutaminase 3

HGNC Alias Symbol

TGE

Papers

RefSeq ID

Protein change

DNA change

1–12 of 90 variants

6 papers

NM_003245.4

p.T13K

c.38C>A

5 papers

NM_003245.4

p.G654R

c.1960G>A

5 papers

NM_003245.4

p.G654R

c.1960G>C

5 papers

NM_003245.4

p.R665W

c.1993C>T

4 papers

NM_003245.4

p.Q451*

c.1351C>T

3 papers

NM_003245.4

p.R656W

c.1966C>T

2 papers

NM_003245.4

p.I163L

c.487A>C

2 papers

NM_003245.4

p.S226N

c.677G>A

2 papers

NM_003245.4

p.S249N

c.746G>A

2 papers

NM_003245.4

p.G420S

c.1258G>A

2 papers

NM_003245.4

p.M492L

c.1474A>C

2 papers

NM_003245.4

p.M492L

c.1474A>T