Varaico: Literature-Extracted Genetic Variants

TGM2

438 papers

RefSeq Summary

Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all ...

Pfam Domains

Transglut_Naa 8–122UCSCTransglutaminase family

Transglut_coreaa 260–359UCSCTransglutaminase-like superfamily

Transglut_Caa 473–573UCSCTransglutaminase family, C-terminal ig like domain

Transglut_Caa 587–686UCSCTransglutaminase family, C-terminal ig like domain

Gene Aliases

HGNC Name

transglutaminase 2

HGNC Alias Symbols

TGC; TG2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004613.4

p.L161fs

c.481_482fs

Surrounding Variants

1 paper

NM_004613.4

p.T162A

c.484A>G

1 paper

NM_004613.4

p.T162N

c.485C>A

1 paper

NM_004613.4

p.L161I

c.481C>A

1 paper

NM_004613.4

p.Q163L

c.488A>T

1 paper

NM_004613.4

p.Y159D

c.475T>G

1 paper

NM_004613.4

p.Y159N

c.475T>A

2 papers

NM_004613.4

p.Q164L

c.491A>T

1 paper

NM_004613.4

p.E158G

c.473A>G

1 paper

NM_004613.4

p.F166L

c.496T>C

1 paper

NM_004613.4

p.Q163_F166delFs

c.488_497del10

2 papers

NM_004613.4

p.R156Q

c.467G>A

4 papers

NM_004613.4

p.I167V

c.499A>G