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

2 papers

NM_004613.4

p.N300D

c.898A>G

Surrounding Variants

1 paper

NM_004613.4

p.Y301C

c.902A>G

1 paper

NM_004613.4

p.V298M

c.892G>A

1 paper

NM_004613.4

p.V297V

c.891C>T

1 paper

NM_004613.4

p.V297I

c.889G>A

2 papers

NM_004613.4

p.S303L

c.908C>T

1 paper

NM_004613.4

p.R296H

c.887G>A

2 papers

NM_004613.4

p.R296S

c.886C>A

1 paper

NM_004613.4

p.T295T

c.885C>A

1 paper

NM_004613.4

p.T295A

c.883A>G

1 paper

NM_004613.4

p.P294S

c.880C>T

1 paper

NM_004613.4

p.D306A

c.917A>C

2 papers

NM_004613.4

p.D306E

c.918C>G