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.A616P

c.1846G>C

Surrounding Variants

1 paper

NM_004613.4

p.V615L

c.1843G>T

1 paper

NM_004613.4

p.V615L

c.1843G>C

1 paper

NM_004613.4

p.P614R

c.1841C>G

1 paper

NM_004613.4

p.E618A

c.1853A>C

1 paper

NM_004613.4

p.L613I

c.1837C>A

1 paper

NM_004613.4

p.G619D

c.1856G>A

1 paper

NM_004613.4

p.P612L

c.1835C>T

4 papers

NM_004613.4

p.C620R

c.1858T>C

1 paper

NM_004613.4

p.C620S

c.1858T>A

1 paper

NM_004613.4

p.P612S

c.1834C>T

1 paper

NM_004613.4

p.P612T

c.1834C>A

1 paper

NM_004613.4

p.C620S

c.1859G>C