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.L41L

c.123G>A

Surrounding Variants

1 paper

NM_004613.4

p.L41P

c.122T>C

1 paper

NM_004613.4

p.T42A

c.124A>G

1 paper

NM_004613.4

p.W40C

c.120G>T

1 paper

NM_004613.4

p.W40C

c.120G>C

2 papers

NM_004613.4

p.L43R

c.128T>G

1 paper

NM_004613.4

p.H44N

c.130C>A

1 paper

NM_004613.4

p.H44P

c.131A>C

1 paper

NM_004613.4

p.Q37H

c.111G>T

1 paper

NM_004613.4

p.Q37H

c.111G>C

1 paper

NM_004613.4

p.E46K

c.136G>A

1 paper

NM_004613.4

p.Q37L

c.110A>T

1 paper

NM_004613.4

p.Q37P

c.110A>C