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

Selected Variant

41 papers

NM_201631.4

p.G113C

c.337G>T

Surrounding Variants

1 paper

NM_201631.4

p.V112M

c.334G>A

1 paper

NM_201631.4

p.A111delFs

c.331delC

1 paper

NM_201631.4

p.Y115N

c.343T>A

2 papers

NM_201631.4

p.A111fs

c.331_332fs

7 papers

NM_201631.4

p.T109M

c.326C>T

1 paper

NM_201631.4

p.L117V

c.349T>G

1 paper

NM_201631.4

p.K118E

c.352A>G

1 paper

NM_201631.4

p.I119T

c.356T>C

4 papers

NM_201631.4

p.C105Y

c.314G>A

1 paper

NM_201631.4

p.V102G

c.305T>G

1 paper

NM_201631.4

p.V102L

c.304G>T

1 paper

NM_201631.4

p.V102L

c.304G>C