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

2 papers

NM_052955.3

p.N691D

c.2071A>G

Surrounding Variants

1 paper

NM_052955.3

p.G665R

c.1993G>C

1 paper

NM_052955.3

p.G665R

c.1993G>A

1 paper

NM_052955.3

p.I655L

c.1963A>T

1 paper

NM_052955.3

p.I655L

c.1963A>C

5 papers

NM_052955.3

p.E646K

c.1936G>A

1 paper

NM_052955.3

p.C641_M643delFs

c.1922_1928del7

1 paper

NM_052955.3

p.E619D

c.1857G>T

1 paper

NM_052955.3

p.E619D

c.1857G>C

1 paper

NM_052955.3

p.D602_L605del4

c.1804_1814del12

1 paper

NM_052955.3

p.C604_L605Fs

c.1811_1815delinsTFs

1 paper

NM_052955.3

p.V599A

c.1796T>C

1 paper

NM_052955.3

p.M597I

c.1791G>T