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.F77L

c.229T>C

Surrounding Variants

1 paper

NM_004613.4

p.F77L

c.231T>G

1 paper

NM_004613.4

p.F77L

c.231T>A

4 papers

NM_004613.4

p.R76H

c.227G>A

2 papers

NM_004613.4

p.R76C

c.226C>T

1 paper

NM_004613.4

p.P78L

c.233C>T

1 paper

NM_004613.4

p.P78R

c.233C>G

1 paper

NM_004613.4

p.P78Q

c.233C>A

1 paper

NM_004613.4

p.A75S

c.223G>T

1 paper

NM_004613.4

p.L79P

c.236T>C

1 paper

NM_004613.4

p.L79delFs

c.235delG

1 paper

NM_004613.4

p.K74insFs

c.221_222ins5

1 paper

NM_004613.4

p.R80K

c.239G>A