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.H148delFs

c.443delT

Surrounding Variants

1 paper

NM_000359.3

p.H148fs

c.442_443fs

1 paper

NM_000359.3

p.H148_L150delFs

c.443_449del7

1 paper

NM_000359.3

p.L152F

c.454C>T

1 paper

NM_000359.3

p.Q145*

c.433C>T

4 papers

NM_000359.3

p.G144E

c.431G>A

1 paper

NM_000359.3

p.L153V

c.457C>G

6 papers

NM_000359.3

p.G144R

c.430G>C

6 papers

NM_000359.3

p.G144R

c.430G>A

2 papers

NM_000359.3

p.L152_L153del1

c.456_458delAGG

1 paper

NM_000359.3

p.L153del1

c.457_458delCAG

4 papers

NM_000359.3

p.R143L

c.428G>T

6 papers

NM_000359.3

p.R143H

c.428G>A