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

1–12 of 577 variants

29 papers

NM_000359.3

p.Q292_F293Splc

c.877-2A>G

28 papers

NM_000359.3

p.R142H

c.425G>A

22 papers

NM_000359.3

p.W263*

c.788G>A

22 papers

NM_000359.3

p.V518M

c.1552G>A

21 papers

NM_000359.3

p.R142C

c.424C>T

20 papers

NM_000359.3

p.G278R

c.832G>C

20 papers

NM_000359.3

p.G278R

c.832G>A

19 papers

NM_000359.3

p.V379L

c.1135G>C

18 papers

NM_000359.3

p.W263*

c.789G>A

18 papers

NM_000359.3

p.R307W

c.919C>T

18 papers

NM_000359.3

p.R315C

c.943C>T

18 papers

NM_000359.3

p.R315L

c.944G>T