Varaico: Literature-Extracted Genetic Variants

THG1L

32 papers

RefSeq Summary

The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial...

Pfam Domains

Thg1aa 35–164UCSCtRNAHis guanylyltransferase

Thg1Caa 167–283UCSCThg1 C terminal domain

Gene Aliases

HGNC Name

tRNA-histidine guanylyltransferase 1 like

HGNC Alias Symbols

ICF45; FLJ11601; FLJ20546; IHG-1; hTHG1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 24 variants

9 papers

NM_017872.5

p.V55A

c.164T>C

5 papers

NM_017872.5

p.L232P

c.695T>C

5 papers

NM_017872.5

p.L294P

c.881T>C

3 papers

NM_017872.5

p.C51W

c.153C>G

1 paper

NM_017872.5

p.G3insFs

c.7_8ins7

1 paper

NM_017872.5

p.S12Y

c.35C>A

1 paper

NM_017872.5

p.T15T

c.45C>T

1 paper

NM_017872.5

p.T46N

c.137C>A

1 paper

NM_017872.5

p.H63Y

c.187C>T

1 paper

NM_017872.5

p.N75S

c.224A>G

1 paper

NM_017872.5

p.D76A

c.227A>C

1 paper

NM_017872.5

p.L94P

c.281T>C