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.L135H

c.404T>A

Surrounding Variants

1 paper

NM_198994.3

p.C140_A141delFs

c.420_421delTG

1 paper

NM_198994.3

p.C140Y

c.419G>A

2 papers

NM_198994.3

p.A141E

c.422C>A

1 paper

NM_198994.3

p.R127P

c.380G>C

1 paper

NM_198994.3

p.R127W

c.379C>T

1 paper

NM_198994.3

p.R122H

c.365G>A

1 paper

NM_198994.3

p.Y112C

c.335A>G

13 papers

NM_198994.3

p.R111C

c.331C>T

1 paper

NM_198994.3

p.S106C

c.316A>T

1 paper

NM_198994.3

p.P105T

c.313C>A

1 paper

NM_198994.3

p.L101L

c.303C>T

1 paper

NM_198994.3

p.R81R

c.243G>T