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.P179A

c.535C>G

Surrounding Variants

1 paper

NM_004613.4

p.I178delFs

c.533delA

1 paper

NM_004613.4

p.I178L

c.532A>T

1 paper

NM_004613.4

p.I178L

c.532A>C

1 paper

NM_004613.4

p.W180L

c.539G>T

1 paper

NM_004613.4

p.N177S

c.530A>G

1 paper

NM_004613.4

p.K176Q

c.526A>C

1 paper

NM_004613.4

p.I175delFs

c.524delA

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

1 paper

NM_004613.4

p.Q184_F185Splc

c.552+1G>A

1 paper

NM_004613.4

p.A172T

c.514G>A