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

6 papers

NM_000359.3

p.R323W

c.967C>T

Surrounding Variants

1 paper

NM_000359.3

p.R323G

c.967C>G

16 papers

NM_000359.3

p.R323Q

c.968G>A

3 papers

NM_000359.3

p.S326fs

c.976_977fs

3 papers

NM_000359.3

p.S326delFs

c.977_978delAG

1 paper

NM_000359.3

p.S326del1

c.976_977delAGA

1 paper

NM_000359.3

p.P318insFs

c.952dupC

1 paper

NM_000359.3

p.A327delFs

c.980delG

12 papers

NM_000359.3

p.M328_V329Splc

c.984+1G>A

1 paper

NM_000359.3

p.M328_V329Splc

c.984+2T>C

18 papers

NM_000359.3

p.R315L

c.944G>T

16 papers

NM_000359.3

p.R315H

c.944G>A

18 papers

NM_000359.3

p.R315C

c.943C>T