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.S171insFs

c.512_513ins4

Surrounding Variants

2 papers

NM_004613.4

p.S171L

c.512C>T

1 paper

NM_004613.4

p.S171A

c.511T>G

1 paper

NM_004613.4

p.S171S

c.513G>A

1 paper

NM_004613.4

p.A172T

c.514G>A

1 paper

NM_004613.4

p.Q169H

c.507G>T

1 paper

NM_004613.4

p.K173N

c.519G>T

1 paper

NM_004613.4

p.K173N

c.519G>C

1 paper

NM_004613.4

p.K173delFs

c.518delT

2 papers

NM_004613.4

p.I167del1

c.499_500delGAT

1 paper

NM_004613.4

p.I167insFs

c.499dupA

1 paper

NM_004613.4

p.I175delFs

c.524delA

4 papers

NM_004613.4

p.I167V

c.499A>G