Varaico: Literature-Extracted Genetic Variants

Gene:HDC
Variant:p.I494V

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
3 papers
NM_002112.4
p.I494V
c.1480A>G
Surrounding Variants
1 paper
NM_002112.4
p.R498G
c.1492A>G
2 papers
NM_002112.4
p.R486W
c.1456C>T
1 paper
NM_002112.4
p.T504T
c.1512G>A
1 paper
NM_002112.4
p.L473V
c.1417C>G
1 paper
NM_002112.4
p.A470P
c.1408G>C
3 papers
NM_002112.4
p.R468*
c.1402C>T
3 papers
NM_002112.4
p.I522L
c.1564A>C
1 paper
NM_002112.4
p.V529V
c.1587G>C
1 paper
NM_002112.4
p.R447H
c.1340G>A
1 paper
NM_002112.4
p.L546P
c.1637T>C
1 paper
NM_002112.4
p.F553L
c.1657T>C
1 paper
NM_002112.4
p.F553L
c.1659T>G
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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."