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

2 papers

NM_000359.3

p.V518fs

c.1552_1553fs

Surrounding Variants

1 paper

NM_000359.3

p.V518L

c.1552G>T

22 papers

NM_000359.3

p.V518M

c.1552G>A

2 papers

NM_000359.3

p.V518delFs

c.1552delC

4 papers

NM_000359.3

p.E519*

c.1555G>T

2 papers

NM_000359.3

p.E519G

c.1556A>G

10 papers

NM_000359.3

p.E520G

c.1559A>G

1 paper

NM_000359.3

p.I515S

c.1544T>G

2 papers

NM_000359.3

p.I515V

c.1543A>G

4 papers

NM_000359.3

p.G524S

c.1570G>A

3 papers

NM_000359.3

p.G524D

c.1571G>A

1 paper

NM_000359.3

p.D510H

c.1528G>C

1 paper

NM_000359.3

p.Q508fs

c.1522_1523fs