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

2 papers

NM_000359.3

p.E133insFs

c.397_398ins10

Surrounding Variants

2 papers

NM_000359.3

p.E133fs

c.397_398fs

1 paper

NM_000359.3

p.D132del1

c.394_396delGTC

1 paper

NM_000359.3

p.Y134H

c.400T>C

4 papers

NM_000359.3

p.D132N

c.394G>A

9 papers

NM_000359.3

p.Y134C

c.401A>G

1 paper

NM_000359.3

p.E135K

c.403G>A

2 papers

NM_000359.3

p.T131A

c.391A>G

1 paper

NM_000359.3

p.H130P

c.389A>C

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