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.M597I

c.1791G>A

Surrounding Variants

1 paper

NM_052955.3

p.M597I

c.1791G>T

1 paper

NM_052955.3

p.M597I

c.1791G>C

1 paper

NM_052955.3

p.V599A

c.1796T>C

1 paper

NM_052955.3

p.E589fs

c.1765_1766fs

1 paper

NM_052955.3

p.C604_L605Fs

c.1811_1815delinsTFs

1 paper

NM_052955.3

p.E589delFs

c.1765delC

1 paper

NM_052955.3

p.D602_L605del4

c.1804_1814del12

1 paper

NM_052955.3

p.A588T

c.1762G>A

2 papers

NM_052955.3

p.V584M

c.1750G>A

1 paper

NM_052955.3

p.R583H

c.1748G>A

1 paper

NM_052955.3

p.T577M

c.1730C>T

1 paper

NM_052955.3

p.N574_K575del1

c.1722_1724delTTG