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.G239A

c.716G>C

Surrounding Variants

1 paper

NM_004613.4

p.G239V

c.716G>T

2 papers

NM_004613.4

p.R240H

c.719G>A

1 paper

NM_004613.4

p.W241L

c.722G>T

1 paper

NM_004613.4

p.V236insFs

c.707dupT

1 paper

NM_004613.4

p.G235S

c.703G>A

1 paper

NM_004613.4

p.N244D

c.730A>G

1 paper

NM_004613.4

p.N244S

c.731A>G

1 paper

NM_004613.4

p.D233E

c.699C>G

1 paper

NM_004613.4

p.D233E

c.699C>A

1 paper

NM_004613.4

p.Y245F

c.734A>T

2 papers

NM_004613.4

p.D233A

c.698A>C

1 paper

NM_004613.4

p.G246R

c.736G>C