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

5 papers

NM_198994.3

p.R448W

c.1342C>T

Surrounding Variants

1 paper

NM_198994.3

p.F462L

c.1384T>C

1 paper

NM_198994.3

p.I471T

c.1412T>C

1 paper

NM_198994.3

p.R474C

c.1420C>T

1 paper

NM_198994.3

p.G477delFs

c.1430delG

1 paper

NM_198994.3

p.G477insFs

c.1429_1430ins5

2 papers

NM_198994.3

p.G477fs

c.1429_1430fs

1 paper

NM_198994.3

p.G477A

c.1430G>C

1 paper

NM_198994.3

p.A490T

c.1468G>A

1 paper

NM_198994.3

p.K492K

c.1476G>A

4 papers

NM_198994.3

p.P493L

c.1478C>T

1 paper

NM_198994.3

p.K498R

c.1493A>G

3 papers

NM_198994.3

p.L502Q

c.1505T>A