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.Y346*

c.1038C>A

Surrounding Variants

7 papers

NM_000359.3

p.R348*

c.1042C>T

1 paper

NM_000359.3

p.D345N

c.1033G>A

1 paper

NM_000359.3

p.W342L

c.1025G>T

2 papers

NM_000359.3

p.W342R

c.1024T>C

2 papers

NM_000359.3

p.W342R

c.1024T>A

4 papers

NM_000359.3

p.P352A

c.1054C>G

1 paper

NM_000359.3

p.P352L

c.1055C>T

1 paper

NM_000359.3

p.G340delFs

c.1018delC

1 paper

NM_000359.3

p.G340_N341ins5

c.1018_1022ins15

1 paper

NM_000359.3

p.I339delFs

c.1016delA

1 paper

NM_000359.3

p.V356fs

c.1066_1067fs

1 paper

NM_000359.3

p.G357S

c.1069G>A