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

7 papers

NM_000359.3

p.Y365D

c.1093T>G

Surrounding Variants

1 paper

NM_000359.3

p.L362_S364del0

c.1086_1091del6

2 papers

NM_000359.3

p.Y365C

c.1094A>G

1 paper

NM_000359.3

p.L366V

c.1096C>G

5 papers

NM_000359.3

p.L366P

c.1097T>C

3 papers

NM_000359.3

p.L362R

c.1085T>G

4 papers

NM_000359.3

p.I361delFs

c.1083delG

3 papers

NM_000359.3

p.L362fs

c.1084_1085fs

1 paper

NM_000359.3

p.I361T

c.1082T>C

1 paper

NM_000359.3

p.T368delFs

c.1103delG

1 paper

NM_000359.3

p.G369fs

c.1105_1106fs

1 paper

NM_000359.3

p.G369delFs

c.1106delC

1 paper

NM_000359.3

p.V356_E360delFs

c.1066_1078del13