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.D391N

c.1171G>A

Surrounding Variants

1 paper

NM_201631.4

p.P393R

c.1178C>G

1 paper

NM_201631.4

p.G384_F394del0

c.1151_1180del30

1 paper

NM_201631.4

p.M398K

c.1193T>A

1 paper

NM_201631.4

p.V378L

c.1132G>C

1 paper

NM_201631.4

p.V408_Q409delFs

c.1223_1227del5

1 paper

NM_201631.4

p.G410E

c.1229G>A

1 paper

NM_201631.4

p.V370I

c.1108G>A

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.E413_N425del13

c.1237_1274del39

1 paper

NM_201631.4

p.F426_I427insFs

c.1278_1279insC

1 paper

NM_201631.4

p.T429insFs

c.1286_1287insC