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.G420S

c.1258G>A

Surrounding Variants

1 paper

NM_003245.4

p.V414L

c.1240G>C

1 paper

NM_003245.4

p.V414L

c.1240G>T

1 paper

NM_003245.4

p.G429insFs

c.1286_1287insC

1 paper

NM_003245.4

p.K408_Q409delFs

c.1223_1227del5

1 paper

NM_003245.4

p.A432T

c.1294G>A

1 paper

NM_003245.4

p.D435_V436delFs

c.1303_1307del5

1 paper

NM_003245.4

p.Y440Y

c.1320C>T

1 paper

NM_003245.4

p.E444insFs

c.1331_1332insA

1 paper

NM_003245.4

p.A395V

c.1184C>T

1 paper

NM_003245.4

p.P357S

c.1069C>T

1 paper

NM_003245.4

p.A355G

c.1064C>G

1 paper

NM_003245.4

p.W337L

c.1010G>T