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

1 paper

NM_003245.4

p.T70_K71delFs

c.210_211delGA

Surrounding Variants

1 paper

NM_003245.4

p.T70M

c.209C>T

1 paper

NM_003245.4

p.L88F

c.262C>T

1 paper

NM_003245.4

p.L88P

c.263T>C

1 paper

NM_003245.4

p.G93G

c.279C>G

1 paper

NM_003245.4

p.R110Q

c.329G>A

1 paper

NM_003245.4

p.E52K

c.154G>A

1 paper

NM_003245.4

p.R33W

c.97C>T

1 paper

NM_003245.4

p.A19A

c.57G>A

1 paper

NM_003245.4

p.R17*

c.49C>T

6 papers

NM_003245.4

p.T13K

c.38C>A

1 paper

NM_003245.4

p.V144I

c.430G>A

1 paper

NM_003245.4

p.H149N

c.445C>A