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.Q292_F293Splc

c.876+2T>C

Surrounding Variants

2 papers

NM_000359.3

p.Q292_F293insFs

c.876_877insG

1 paper

NM_000359.3

p.G291delFs

c.873delG

5 papers

NM_000359.3

p.G291D

c.872G>A

3 papers

NM_000359.3

p.G291S

c.871G>A

1 paper

NM_000359.3

p.Q292_F293Splc

c.876+10G>A

2 papers

NM_000359.3

p.N289T

c.866A>C

2 papers

NM_000359.3

p.W288R

c.862T>C

2 papers

NM_000359.3

p.W288R

c.862T>A

8 papers

NM_000359.3

p.R286Q

c.857G>A

3 papers

NM_000359.3

p.R286W

c.856C>T

3 papers

NM_000359.3

p.E285K

c.853G>A

1 paper

NM_000359.3

p.A281_Q282Fs

c.842_846delinsTAAFs