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

3 papers

NM_000359.3

p.D294_G296delFs

c.882_888del7

Surrounding Variants

4 papers

NM_000359.3

p.V297A

c.890T>C

1 paper

NM_000359.3

p.D294_H295delFs

c.882_885del4

1 paper

NM_000359.3

p.D294H

c.880G>C

1 paper

NM_000359.3

p.D294fs

c.880_881fs

2 papers

NM_000359.3

p.F293V

c.877T>G

29 papers

NM_000359.3

p.Q292_F293Splc

c.877-2A>G

1 paper

NM_000359.3

p.Q292_F293Splc

c.877-2A>C

10 papers

NM_000359.3

p.I304F

c.910A>T

1 paper

NM_000359.3

p.I304T

c.911T>C

2 papers

NM_000359.3

p.D306E

c.918C>G

1 paper

NM_000359.3

p.D306E

c.918C>A

18 papers

NM_000359.3

p.R307W

c.919C>T