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

1 paper

NM_201631.4

p.Y444insFs

c.1331_1332insA

Surrounding Variants

13 papers

NM_201631.4

p.K445N

c.1335G>T

14 papers

NM_201631.4

p.K445N

c.1335G>C

2 papers

NM_201631.4

p.D439G

c.1316A>G

1 paper

NM_201631.4

p.D435_E436delFs

c.1303_1307del5

1 paper

NM_201631.4

p.D435delFs

c.1304delT

1 paper

NM_201631.4

p.T429insFs

c.1286_1287insC

1 paper

NM_201631.4

p.F426_I427insFs

c.1278_1279insC

1 paper

NM_201631.4

p.E413_N425del13

c.1237_1274del39

1 paper

NM_201631.4

p.K412Q

c.1234A>C

1 paper

NM_201631.4

p.G411del1

c.1231_1233delCCC

1 paper

NM_201631.4

p.G410E

c.1229G>A

1 paper

NM_201631.4

p.V408_Q409delFs

c.1223_1227del5