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.L31L

c.93G>A

Surrounding Variants

1 paper

NM_201631.4

p.V28_D29insFs

c.84_85insG

1 paper

NM_201631.4

p.R34H

c.101G>A

3 papers

NM_201631.4

p.R35W

c.103C>T

1 paper

NM_201631.4

p.R35P

c.104G>C

3 papers

NM_201631.4

p.R35Q

c.104G>A

1 paper

NM_201631.4

p.R20_E24delFs

c.58_70del13

2 papers

NM_201631.4

p.L41P

c.122T>C

1 paper

NM_201631.4

p.T42N

c.125C>A

2 papers

NM_201631.4

p.R20Q

c.59G>A

1 paper

NM_201631.4

p.L43R

c.128T>G

1 paper

NM_201631.4

p.R48delFs

c.142_143delCG

1 paper

NM_201631.4

p.F50L

c.148T>C