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

Selected Variant

2 papers

NM_003245.4

p.S226N

c.677G>A

Surrounding Variants

1 paper

NM_003245.4

p.D229N

c.685G>A

2 papers

NM_003245.4

p.S249N

c.746G>A

1 paper

NM_003245.4

p.V254M

c.760G>A

1 paper

NM_003245.4

p.G264D

c.791G>A

1 paper

NM_003245.4

p.C273*

c.819C>A

1 paper

NM_003245.4

p.F276I

c.826T>A

1 paper

NM_003245.4

p.A277T

c.829G>A

1 paper

NM_003245.4

p.G278R

c.832G>A

1 paper

NM_003245.4

p.G278R

c.832G>C

1 paper

NM_003245.4

p.R285Q

c.854G>A

1 paper

NM_003245.4

p.R292W

c.874C>T

1 paper

NM_003245.4

p.R305Q

c.914G>A