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

5 papers

NM_003245.4

p.G654R

c.1960G>C

Surrounding Variants

5 papers

NM_003245.4

p.G654R

c.1960G>A

3 papers

NM_003245.4

p.R656W

c.1966C>T

1 paper

NM_003245.4

p.G650E

c.1949G>A

1 paper

NM_003245.4

p.P647L

c.1940C>T

5 papers

NM_003245.4

p.R665W

c.1993C>T

2 papers

NM_003245.4

p.R665Q

c.1994G>A

1 paper

NM_003245.4

p.A673V

c.2018C>T

1 paper

NM_003245.4

p.S688Y

c.2063C>A

1 paper

NM_003245.4

p.K643N

c.1929G>C

1 paper

NM_003245.4

p.K643N

c.1929G>T

1 paper

NM_003245.4

p.N641_K643delFs

c.1922_1928del7

1 paper

NM_003245.4

p.L616F

c.1846C>T