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.C274W

c.822C>G

Surrounding Variants

1 paper

NM_198994.3

p.V276L

c.826G>C

1 paper

NM_198994.3

p.L281delFs

c.841delC

1 paper

NM_198994.3

p.V284Splc

c.850+1G>A

1 paper

NM_198994.3

p.K263K

c.789G>A

2 papers

NM_198994.3

p.V284Splc

c.850+16A>G

1 paper

NM_198994.3

p.Q259H

c.777G>C

1 paper

NM_198994.3

p.Q259H

c.777G>T

1 paper

NM_198994.3

p.V255M

c.763G>A

1 paper

NM_198994.3

p.P248L

c.743C>T

1 paper

NM_198994.3

p.G243D

c.728G>A

1 paper

NM_198994.3

p.G243S

c.727G>A

2 papers

NM_198994.3

p.R231*

c.691C>T