Varaico: Literature-Extracted Genetic Variants

TGM5

188 papers

RefSeq Summary

This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of pro...

Pfam Domains

Transglut_Naa 8–122UCSCTransglutaminase family

Transglut_coreaa 252–361UCSCTransglutaminase-like superfamily

Transglut_Caa 507–606UCSCTransglutaminase family, C-terminal ig like domain

Transglut_Caa 620–718UCSCTransglutaminase family, C-terminal ig like domain

Gene Aliases

HGNC Name

transglutaminase 5

HGNC Alias Symbols

TGX; TGMX

Papers

RefSeq ID

Protein change

DNA change

1–12 of 191 variants

41 papers

NM_201631.4

p.G113C

c.337G>T

14 papers

NM_201631.4

p.K445N

c.1335G>C

13 papers

NM_201631.4

p.K445N

c.1335G>T

10 papers

NM_201631.4

p.W255R

c.763T>C

10 papers

NM_201631.4

p.W255R

c.763T>A

7 papers

NM_201631.4

p.T109M

c.326C>T

4 papers

NM_201631.4

p.C105Y

c.314G>A

3 papers

NM_201631.4

p.R35W

c.103C>T

3 papers

NM_201631.4

p.R35Q

c.104G>A

3 papers

NM_201631.4

p.P85delFs

c.255delG

3 papers

NM_201631.4

p.L214delFs

c.640delG

3 papers

NM_201631.4

p.V284I

c.850G>A