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

8 papers

NM_000359.3

p.R127*

c.379C>T

Surrounding Variants

1 paper

NM_000359.3

p.R127Q

c.380G>A

2 papers

NM_000359.3

p.R126fs

c.376_377fs

4 papers

NM_000359.3

p.N125insFs

c.375dupC

11 papers

NM_000359.3

p.R126H

c.377G>A

1 paper

NM_000359.3

p.R127R

c.381A>T

10 papers

NM_000359.3

p.R126C

c.376C>T

2 papers

NM_000359.3

p.R126fs

c.376_377fs

2 papers

NM_000359.3

p.N125delFs

c.374delT

2 papers

NM_000359.3

p.E128G

c.383A>G

1 paper

NM_000359.3

p.N125T

c.374A>C

2 papers

NM_000359.3

p.N125fs

c.373_374fs

2 papers

NM_000359.3

p.N125D

c.373A>G