Varaico: Literature-Extracted Genetic Variants

Gene:HDC
Variant:p.R393G

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.R393G
c.1177A>G
Surrounding Variants
1 paper
NM_002112.4
p.G381D
c.1142G>A
1 paper
NM_002112.4
p.G381S
c.1141G>A
1 paper
NM_002112.4
p.K414_G415insFs
c.1242_1243insA
1 paper
NM_002112.4
p.C418S
c.1252T>A
1 paper
NM_002112.4
p.C418S
c.1253G>C
1 paper
NM_002112.4
p.R432H
c.1295G>A
1 paper
NM_002112.4
p.R447H
c.1340G>A
3 papers
NM_002112.4
p.R468*
c.1402C>T
1 paper
NM_002112.4
p.A470P
c.1408G>C
1 paper
NM_002112.4
p.L473V
c.1417C>G
2 papers
NM_002112.4
p.R486W
c.1456C>T
3 papers
NM_002112.4
p.I494V
c.1480A>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."