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

1 paper

NM_000359.3

p.V498V

c.1494G>A

Surrounding Variants

1 paper

NM_000359.3

p.S500R

c.1498A>C

1 paper

NM_000359.3

p.S500R

c.1500T>G

1 paper

NM_000359.3

p.S500R

c.1500T>A

1 paper

NM_000359.3

p.K502*

c.1504A>T

1 paper

NM_000359.3

p.K502E

c.1504A>G

1 paper

NM_000359.3

p.Y504fs

c.1510_1511fs

1 paper

NM_000359.3

p.Y504*

c.1512C>G

1 paper

NM_000359.3

p.Y504delFs

c.1510_1511delTA

1 paper

NM_000359.3

p.E497_V498Splc

c.1492-19T>A

1 paper

NM_000359.3

p.Q508fs

c.1522_1523fs

1 paper

NM_000359.3

p.R507delFs

c.1521delC

1 paper

NM_000359.3

p.D510H

c.1528G>C