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.E560D

c.1680G>C

Surrounding Variants

1 paper

NM_052955.3

p.E560D

c.1680G>T

3 papers

NM_052955.3

p.P564L

c.1691C>T

1 paper

NM_052955.3

p.L565F

c.1693C>T

1 paper

NM_052955.3

p.P568L

c.1703C>T

1 paper

NM_052955.3

p.N574_K575del1

c.1722_1724delTTG

1 paper

NM_052955.3

p.T577M

c.1730C>T

1 paper

NM_052955.3

p.R583H

c.1748G>A

2 papers

NM_052955.3

p.V584M

c.1750G>A

1 paper

NM_052955.3

p.A588T

c.1762G>A

1 paper

NM_052955.3

p.E589delFs

c.1765delC

1 paper

NM_052955.3

p.E589fs

c.1765_1766fs

1 paper

NM_052955.3

p.M597I

c.1791G>T