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

14 papers

NM_198994.3

p.D510H

c.1528G>C

Surrounding Variants

2 papers

NM_198994.3

p.G508D

c.1523G>A

1 paper

NM_198994.3

p.P504S

c.1510C>T

1 paper

NM_198994.3

p.L517V

c.1549T>G

1 paper

NM_198994.3

p.L517S

c.1550T>C

23 papers

NM_198994.3

p.L517W

c.1550T>G

3 papers

NM_198994.3

p.L502Q

c.1505T>A

1 paper

NM_198994.3

p.K498R

c.1493A>G

4 papers

NM_198994.3

p.P493L

c.1478C>T

1 paper

NM_198994.3

p.K492K

c.1476G>A

2 papers

NM_198994.3

p.V527E

c.1580T>A

1 paper

NM_198994.3

p.A490T

c.1468G>A

1 paper

NM_198994.3

p.T539P

c.1615A>C