Varaico: Literature-Extracted Genetic Variants

Gene:HDC
Variant:p.A296V

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.A296V
c.887C>T
Surrounding Variants
1 paper
NM_002112.4
p.A296A
c.888C>T
1 paper
NM_002112.4
p.G292R
c.874G>C
1 paper
NM_002112.4
p.G292R
c.874G>A
1 paper
NM_002112.4
p.P303S
c.907C>T
1 paper
NM_002112.4
p.C283R
c.847T>C
1 paper
NM_002112.4
p.H310R
c.929A>G
1 paper
NM_002112.4
p.W317*
c.950G>A
1 paper
NM_002112.4
p.A275T
c.823G>A
28 papers
NM_002112.4
p.W317*
c.950G>A
28 papers
NM_002112.4
p.W317*
c.951G>A
1 paper
NM_002112.4
p.Y334F
c.1001A>T
1 paper
NM_002112.4
p.T344T
c.1032C>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."