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

Selected Variant

1 paper

NM_198994.3

p.I567L

c.1699A>T

Surrounding Variants

1 paper

NM_198994.3

p.I567L

c.1699A>C

2 papers

NM_198994.3

p.P564S

c.1690C>T

6 papers

NM_198994.3

p.E574_D575del1

c.1722_1724delAGA

2 papers

NM_198994.3

p.L589H

c.1766T>A

1 paper

NM_198994.3

p.K595E

c.1783A>G

1 paper

NM_198994.3

p.K600N

c.1800G>C

1 paper

NM_198994.3

p.K600N

c.1800G>T

1 paper

NM_198994.3

p.I602_E605del4

c.1804_1814del12

1 paper

NM_198994.3

p.L604_E605Fs

c.1811_1815delinsTFs

1 paper

NM_198994.3

p.T609T

c.1827C>T

1 paper

NM_198994.3

p.G619R

c.1855G>A

1 paper

NM_198994.3

p.G619R

c.1855G>C