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

5 papers

NM_000359.3

p.Y374C

c.1121A>G

Surrounding Variants

3 papers

NM_000359.3

p.G375D

c.1124G>A

1 paper

NM_000359.3

p.G375G

c.1125C>T

3 papers

NM_000359.3

p.V372A

c.1115T>C

3 papers

NM_000359.3

p.V372I

c.1114G>A

3 papers

NM_000359.3

p.C377Y

c.1130G>A

1 paper

NM_000359.3

p.C377W

c.1131C>G

1 paper

NM_000359.3

p.C377*

c.1131C>A

3 papers

NM_000359.3

p.G369insFs

c.1107dupA

1 paper

NM_000359.3

p.Y370fs

c.1108_1109fs

1 paper

NM_000359.3

p.W378C

c.1134G>T

1 paper

NM_000359.3

p.W378C

c.1134G>C

19 papers

NM_000359.3

p.V379L

c.1135G>C