Varaico: Literature-Extracted Genetic Variants

Gene:HDC
Variant:p.L211L

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.L211L
c.633G>C
Surrounding Variants
1 paper
NM_002112.4
p.K207R
c.620A>G
1 paper
NM_002112.4
p.V206L
c.616G>T
1 paper
NM_002112.4
p.V206L
c.616G>C
1 paper
NM_002112.4
p.L219F
c.655C>T
1 paper
NM_002112.4
p.R220*
c.658C>T
1 paper
NM_002112.4
p.D231G
c.692A>G
1 paper
NM_002112.4
p.Q233E
c.697C>G
1 paper
NM_002112.4
p.Q192*
c.574C>T
1 paper
NM_002112.4
p.A187A
c.561C>G
4 papers
NM_002112.4
p.L185I
c.553C>A
1 paper
NM_002112.4
p.C180C
c.540C>T
1 paper
NM_002112.4
p.C180S
c.539G>C
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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."