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.R262Q

c.785G>A

Surrounding Variants

3 papers

NM_004613.4

p.R262W

c.784C>T

1 paper

NM_004613.4

p.R263C

c.787C>T

1 paper

NM_004613.4

p.R263S

c.787C>A

2 papers

NM_004613.4

p.R263H

c.788G>A

1 paper

NM_004613.4

p.W264*

c.791G>A

2 papers

NM_004613.4

p.I260V

c.778A>G

1 paper

NM_004613.4

p.N266S

c.797A>G

1 paper

NM_004613.4

p.S257N

c.770G>A

1 paper

NM_004613.4

p.I255S

c.764T>G

1 paper

NM_004613.4

p.I255F

c.763A>T

1 paper

NM_004613.4

p.Q270P

c.809A>C

1 paper

NM_004613.4

p.W254R

c.760T>C