Varaico: Literature-Extracted Genetic Variants

TGM7

78 papers

RefSeq Summary

Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. ...

Pfam Domains

Transglut_Naa 10–123UCSCTransglutaminase family

Transglut_coreaa 263–362UCSCTransglutaminase-like superfamily

Transglut_Caa 608–706UCSCTransglutaminase family, C-terminal ig like domain

Gene Aliases

HGNC Name

transglutaminase 7

HGNC Alias Symbol

TGMZ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_052955.3

p.M553I

c.1659G>A

Surrounding Variants

1 paper

NM_052955.3

p.M553I

c.1659G>T

1 paper

NM_052955.3

p.M553I

c.1659G>C

1 paper

NM_052955.3

p.R530C

c.1588C>T

1 paper

NM_052955.3

p.P524P

c.1572C>G

1 paper

NM_052955.3

p.G523G

c.1569G>C

1 paper

NM_052955.3

p.P521S

c.1561C>T

2 papers

NM_052955.3

p.V515L

c.1543G>T

2 papers

NM_052955.3

p.V515L

c.1543G>C

1 paper

NM_052955.3

p.R511H

c.1532G>A

1 paper

NM_052955.3

p.R471I

c.1412G>T

3 papers

NM_052955.3

p.R464Q

c.1391G>A

1 paper

NM_052955.3

p.S452P

c.1354T>C