Varaico: Literature-Extracted Genetic Variants

TGM6

162 papers

RefSeq Summary

The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are assoc...

Pfam Domains

Transglut_Naa 7–119UCSCTransglutaminase family

Transglut_coreaa 258–357UCSCTransglutaminase-like superfamily

Transglut_Caa 495–600UCSCTransglutaminase family, C-terminal ig like domain

Transglut_Caa 607–704UCSCTransglutaminase family, C-terminal ig like domain

Gene Aliases

HGNC Name

transglutaminase 6

HGNC Previous Symbol

TGM3L

Papers

RefSeq ID

Protein change

DNA change

1–12 of 153 variants

23 papers

NM_198994.3

p.L517W

c.1550T>G

14 papers

NM_198994.3

p.D510H

c.1528G>C

13 papers

NM_198994.3

p.R111C

c.331C>T

12 papers

NM_198994.3

p.D327G

c.980A>G

7 papers

NM_198994.3

p.V391M

c.1171G>A

6 papers

NM_198994.3

p.G3Splc

c.7+1G>T

6 papers

NM_198994.3

p.E574_D575del1

c.1722_1724delAGA

5 papers

NM_198994.3

p.R448W

c.1342C>T

4 papers

NM_198994.3

p.R342W

c.1024C>T

4 papers

NM_198994.3

p.P493L

c.1478C>T

4 papers

NM_198994.3

p.R665S

c.1995G>T

3 papers

NM_198994.3

p.M58V

c.172A>G