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.S37S

c.111G>A

Surrounding Variants

1 paper

NM_198994.3

p.S37*

c.110C>A

1 paper

NM_198994.3

p.S39C

c.115A>T

1 paper

NM_198994.3

p.L40P

c.119T>C

1 paper

NM_198994.3

p.R34G

c.100A>G

1 paper

NM_198994.3

p.D49Y

c.145G>T

1 paper

NM_198994.3

p.C50S

c.148T>A

1 paper

NM_198994.3

p.C50Y

c.149G>A

1 paper

NM_198994.3

p.C50S

c.149G>C

1 paper

NM_198994.3

p.T57K

c.170C>A

1 paper

NM_198994.3

p.T57M

c.170C>T

3 papers

NM_198994.3

p.M58V

c.172A>G

2 papers

NM_198994.3

p.W11G

c.31T>G