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.S378F

c.1133C>T

Surrounding Variants

1 paper

NM_052955.3

p.V396G

c.1187T>G

1 paper

NM_052955.3

p.A402T

c.1204G>A

1 paper

NM_052955.3

p.L409P

c.1226T>C

1 paper

NM_052955.3

p.L408_L409delFs

c.1223_1227del5

1 paper

NM_052955.3

p.G410E

c.1229G>A

1 paper

NM_052955.3

p.L418P

c.1253T>C

1 paper

NM_052955.3

p.I429insFs

c.1286_1287insC

1 paper

NM_052955.3

p.G435_S436delFs

c.1303_1307del5

1 paper

NM_052955.3

p.T443I

c.1328C>T

1 paper

NM_052955.3

p.S444insFs

c.1331_1332insA

1 paper

NM_052955.3

p.E450K

c.1348G>A

1 paper

NM_052955.3

p.G356R

c.1066G>C