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

11 papers

NM_000359.3

p.I140M

c.420A>G

Surrounding Variants

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

28 papers

NM_000359.3

p.R142H

c.425G>A

1 paper

NM_000359.3

p.D137_E138insFs

c.411_412ins4

17 papers

NM_000359.3

p.R143C

c.427C>T

1 paper

NM_000359.3

p.E135_D137insFs

c.405_411dup7

4 papers

NM_000359.3

p.R143L

c.428G>T

1 paper

NM_000359.3

p.Y136_D137insFs

c.408_411dup4

6 papers

NM_000359.3

p.R143H

c.428G>A

2 papers

NM_000359.3

p.E138fs

c.412_413fs

6 papers

NM_000359.3

p.G144R

c.430G>C