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.V268delFs

c.802delC

Surrounding Variants

1 paper

NM_000359.3

p.V268D

c.803T>A

2 papers

NM_000359.3

p.V268fs

c.802_803fs

1 paper

NM_000359.3

p.Y267*

c.801T>G

1 paper

NM_000359.3

p.L269delins

c.807delinsC

1 paper

NM_000359.3

p.Y267H

c.799T>C

1 paper

NM_000359.3

p.V268_L269delins

c.804_807delinsC

1 paper

NM_000359.3

p.N270H

c.808A>C

2 papers

NM_000359.3

p.L269del1

c.805_806delAAG

1 paper

NM_000359.3

p.E266G

c.797A>G

8 papers

NM_000359.3

p.S272P

c.814T>C

11 papers

NM_000359.3

p.R264Q

c.791G>A

14 papers

NM_000359.3

p.R264W

c.790C>T