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.L190L

c.568C>T

Surrounding Variants

1 paper

NM_004613.4

p.G188_I189insFs

c.564_565insT

1 paper

NM_004613.4

p.L194P

c.581T>C

1 paper

NM_004613.4

p.Q184_F185Splc

c.553-1G>C

1 paper

NM_004613.4

p.I195_L196del1

c.584_586delGGA

1 paper

NM_004613.4

p.D198N

c.592G>A

1 paper

NM_004613.4

p.N200I

c.599A>T

1 paper

NM_004613.4

p.N200T

c.599A>C

1 paper

NM_004613.4

p.N200K

c.600C>G

1 paper

NM_004613.4

p.N200K

c.600C>A

1 paper

NM_004613.4

p.P201T

c.601C>A

1 paper

NM_004613.4

p.P201_K202delFs

c.602_605del4

1 paper

NM_004613.4

p.L204Q

c.611T>A