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.M290I

c.870G>T

Surrounding Variants

1 paper

NM_052955.3

p.M290I

c.870G>C

1 paper

NM_052955.3

p.M290I

c.870G>A

2 papers

NM_052955.3

p.V289L

c.865G>T

2 papers

NM_052955.3

p.V289L

c.865G>C

1 paper

NM_052955.3

p.C292S

c.875G>C

2 papers

NM_052955.3

p.S305S

c.915C>T

1 paper

NM_052955.3

p.H307D

c.919C>G

1 paper

NM_052955.3

p.D316N

c.946G>A

1 paper

NM_052955.3

p.D316V

c.947A>T

1 paper

NM_052955.3

p.W335C

c.1005G>T

1 paper

NM_052955.3

p.W335C

c.1005G>C

2 papers

NM_052955.3

p.V289L

c.865G>T