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

1–12 of 117 variants

5 papers

NM_052955.3

p.E646K

c.1936G>A

4 papers

NM_052955.3

p.V103L

c.307G>C

3 papers

NM_052955.3

p.W266C

c.798G>T

3 papers

NM_052955.3

p.W266C

c.798G>C

3 papers

NM_052955.3

p.R464Q

c.1391G>A

3 papers

NM_052955.3

p.P564L

c.1691C>T

2 papers

NM_052955.3

p.V222M

c.664G>A

2 papers

NM_052955.3

p.G241E

c.722G>A

2 papers

NM_052955.3

p.Y276N

c.826T>A

2 papers

NM_052955.3

p.V289L

c.865G>T

2 papers

NM_052955.3

p.V289L

c.865G>T

2 papers

NM_052955.3

p.V289L

c.865G>C