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.V219delFs

c.657delC

Surrounding Variants

1 paper

NM_052955.3

p.V220M

c.658G>A

1 paper

NM_052955.3

p.V220delFs

c.659delA

1 paper

NM_052955.3

p.V219fs

c.655_656fs

2 papers

NM_052955.3

p.V222M

c.664G>A

1 paper

NM_052955.3

p.D218N

c.652G>A

1 paper

NM_052955.3

p.S214delFs

c.640delA

1 paper

NM_052955.3

p.A210_K211del2

c.628_632del6

1 paper

NM_052955.3

p.M229T

c.686T>C

1 paper

NM_052955.3

p.L203M

c.607C>A

1 paper

NM_052955.3

p.K201_S202delFs

c.602_605del4

2 papers

NM_052955.3

p.G241E

c.722G>A

1 paper

NM_052955.3

p.W243R

c.727T>C