Varaico: Literature-Extracted Genetic Variants

TGM1

351 papers

RefSeq Summary

The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. Th...

Pfam Domains

Transglut_Naa 114–227UCSCTransglutaminase family

Transglut_coreaa 344–460UCSCTransglutaminase-like superfamily

Transglut_Caa 579–683UCSCTransglutaminase family, C-terminal ig like domain

Transglut_Caa 691–788UCSCTransglutaminase family, C-terminal ig like domain

Gene Aliases

HGNC Name

transglutaminase 1

HGNC Previous Symbol

ICR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000359.3

p.D137_E138insFs

c.411_412ins4

Surrounding Variants

1 paper

NM_000359.3

p.E135_D137insFs

c.405_411dup7

1 paper

NM_000359.3

p.Y136_D137insFs

c.408_411dup4

2 papers

NM_000359.3

p.E138fs

c.412_413fs

1 paper

NM_000359.3

p.D137fs

c.409_410fs

5 papers

NM_000359.3

p.Y136*

c.408C>G

2 papers

NM_000359.3

p.E133_Y136insFs

c.398_407dup10

2 papers

NM_000359.3

p.Y136insFs

c.407_408ins10

5 papers

NM_000359.3

p.Y136*

c.408C>A

11 papers

NM_000359.3

p.I140M

c.420A>G

21 papers

NM_000359.3

p.R142C

c.424C>T

1 paper

NM_000359.3

p.R142L

c.425G>T

5 papers

NM_000359.3

p.R142P

c.425G>C