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.M492L

c.1474A>T

Surrounding Variants

2 papers

NM_003245.4

p.M492L

c.1474A>C

1 paper

NM_003245.4

p.A490T

c.1468G>A

1 paper

NM_003245.4

p.L487P

c.1460T>C

1 paper

NM_003245.4

p.A468V

c.1403C>T

1 paper

NM_003245.4

p.V517G

c.1550T>G

1 paper

NM_003245.4

p.M519V

c.1555A>G

4 papers

NM_003245.4

p.Q451*

c.1351C>T

1 paper

NM_003245.4

p.W535L

c.1604G>T

1 paper

NM_003245.4

p.K565fs

c.1693_1694fs

1 paper

NM_003245.4

p.K565delFs

c.1695delG

1 paper

NM_003245.4

p.A574_V575del1

c.1722_1724delGGT

1 paper

NM_003245.4

p.C576Y

c.1727G>A