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

4 papers

NM_052955.3

p.V103L

c.307G>C

Surrounding Variants

1 paper

NM_052955.3

p.D97A

c.290A>C

1 paper

NM_052955.3

p.A111fs

c.331_332fs

1 paper

NM_052955.3

p.R82W

c.244C>T

1 paper

NM_052955.3

p.Q126*

c.376C>T

1 paper

NM_052955.3

p.Q126R

c.377A>G

1 paper

NM_052955.3

p.E70_L71delFs

c.210_211delGC

1 paper

NM_052955.3

p.G135E

c.404G>A

1 paper

NM_052955.3

p.P68L

c.203C>T

1 paper

NM_052955.3

p.E147Splc

c.439+2T>C

1 paper

NM_052955.3

p.V61L

c.181G>T

1 paper

NM_052955.3

p.V61L

c.181G>C

1 paper

NM_052955.3

p.S48N

c.143G>A