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.G369Splc

c.1105+10T>C

Surrounding Variants

1 paper

NM_201631.4

p.E365K

c.1093G>A

1 paper

NM_201631.4

p.Q357H

c.1071G>T

2 papers

NM_201631.4

p.Q357H

c.1071G>C

2 papers

NM_201631.4

p.A352G

c.1055C>G

1 paper

NM_004245.4

p.P268S

c.802C>T

1 paper

NM_201631.4

p.D348Y

c.1042G>T

1 paper

NM_201631.4

p.R346Q

c.1037G>A

2 papers

NM_201631.4

p.R346W

c.1036C>T

1 paper

NM_201631.4

p.R346G

c.1036C>G

1 paper

NM_201631.4

p.W339*

c.1017G>A

1 paper

NM_201631.4

p.V370I

c.1108G>A

1 paper

NM_201631.4

p.W339*

c.1016G>A