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

10 papers

NM_004613.4

p.N333S

c.998A>G

Surrounding Variants

1 paper

NM_004613.4

p.N333K

c.999C>A

2 papers

NM_004613.4

p.F334L

c.1000T>C

1 paper

NM_004613.4

p.W332L

c.995G>T

2 papers

NM_004613.4

p.F334L

c.1002C>G

2 papers

NM_004613.4

p.F334L

c.1002C>A

1 paper

NM_004613.4

p.H335H

c.1005C>T

3 papers

NM_004613.4

p.W337L

c.1010G>T

1 paper

NM_004613.4

p.P345L

c.1034C>T

1 paper

NM_004613.4

p.D346E

c.1038C>G

1 paper

NM_004613.4

p.D346E

c.1038C>A

1 paper

NM_004613.4

p.D346delFs

c.1037delT

1 paper

NM_004613.4

p.Q348insFs

c.1043_1044dupAG