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

4 papers

NM_198994.3

p.R342W

c.1024C>T

Surrounding Variants

1 paper

NM_198994.3

p.R342Q

c.1025G>A

2 papers

NM_198994.3

p.P347L

c.1040C>T

1 paper

NM_198994.3

p.W335*

c.1005G>A

1 paper

NM_198994.3

p.W335*

c.1004G>A

2 papers

NM_198994.3

p.V354I

c.1060G>A

1 paper

NM_198994.3

p.T358delFs

c.1072delA

1 paper

NM_198994.3

p.T358fs

c.1072_1073fs

3 papers

NM_198994.3

p.P359L

c.1076C>T

1 paper

NM_198994.3

p.E364K

c.1090G>A

1 paper

NM_198994.3

p.G365Splc

c.1094-1G>A

2 papers

NM_198994.3

p.R368Q

c.1103G>A

1 paper

NM_198994.3

p.A372T

c.1114G>A