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.I313_Y315delFs

c.938_945del8

Surrounding Variants

2 papers

NM_004613.4

p.R317C

c.949C>T

2 papers

NM_004613.4

p.R317H

c.950G>A

1 paper

NM_004613.4

p.E314E

c.942G>A

1 paper

NM_004613.4

p.N318S

c.953A>G

2 papers

NM_004613.4

p.E314K

c.940G>A

1 paper

NM_004613.4

p.L312_I313del2

c.934_938del6

1 paper

NM_004613.4

p.I313L

c.937A>C

1 paper

NM_004613.4

p.F320_G321insGC

c.958_962ins6

2 papers

NM_004613.4

p.L312L

c.936C>T

1 paper

NM_004613.4

p.F320S

c.959T>C

1 paper

NM_004613.4

p.L311F

c.931C>T

2 papers

NM_004613.4

p.N310K

c.930C>G