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

20 papers

NM_000359.3

p.G278R

c.832G>C

Surrounding Variants

20 papers

NM_000359.3

p.G278R

c.832G>A

1 paper

NM_000359.3

p.Y277del1

c.829_831delGTA

1 paper

NM_000359.3

p.G278E

c.833G>A

1 paper

NM_000359.3

p.Y277insFs

c.829dupT

1 paper

NM_000359.3

p.T279fs

c.835_836fs

2 papers

NM_000359.3

p.G278delFs

c.834delC

8 papers

NM_000359.3

p.Y276N

c.826T>A

1 paper

NM_000359.3

p.A281fs

c.841_842fs

2 papers

NM_000359.3

p.G273delFs

c.818delC

1 paper

NM_000359.3

p.R274fs

c.820_821fs

1 paper

NM_000359.3

p.Q282R

c.845A>G

1 paper

NM_000359.3

p.A281_Q282Fs

c.842_846delinsTAAFs