Varaico: Literature-Extracted Genetic Variants

Gene:HDC
Variant:p.R8G

HDC

133 papers

RefSeq Summary

This gene encodes a member of the group II decarboxylase family and forms a homodimer that converts L-histidine to histamine in a pyridoxal phosphate dependent manner. Histamine regulates several phys...

Pfam Domains

Pyridoxal_deCaa 36–414UCSCPyridoxal-dependent decarboxylase conserved domain

Gene Aliases

HGNC Name

histidine decarboxylase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002112.4
p.R8G
c.22A>G
Surrounding Variants
1 paper
NM_002112.4
p.M1insFs
c.2_3insT
4 papers
NM_002112.4
p.G11Splc
c.31+52C>T
1 paper
NM_002112.4
p.R29H
c.86G>A
1 paper
NM_002112.4
p.V30E
c.89T>A
8 papers
NM_002112.4
p.T31M
c.92C>T
1 paper
NM_002112.4
p.D33N
c.97G>A
1 paper
NM_002112.4
p.D33V
c.98A>T
1 paper
NM_002112.4
p.D52N
c.154G>A
1 paper
NM_002112.4
p.S74C
c.220A>T
1 paper
NM_002112.4
p.A83S
c.247G>T
1 paper
NM_002112.4
p.G92E
c.275G>A
1 paper
NM_002112.4
p.T105I
c.314C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."