Varaico: Literature-Extracted Genetic Variants

Gene:HLCS
Variant:p.Q222R

HLCS

145 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino aci...

Pfam Domains

BPL_LplA_LipBaa 471–603UCSCBiotin/lipoate A/B protein ligase family
BPL_Caa 669–718UCSCBiotin protein ligase C terminal domain

Gene Aliases

HGNC Name

holocarboxylase synthetase

HGNC Alias Symbol

HCS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001352514.2
p.Q222R
c.665A>G
Surrounding Variants
1 paper
NM_001352514.2
p.E219insFs
c.656_657insA
1 paper
NM_001352514.2
p.E218*
c.652G>T
1 paper
NM_001352514.2
p.G217_E218insT
c.649_653ins3
13 papers
NM_001352514.2
p.L216R
c.647T>G
1 paper
NM_001352514.2
p.L216_G217insT
c.646_650ins3
1 paper
NM_001352514.2
p.S230R
c.690T>G
1 paper
NM_001352514.2
p.E231E
c.693G>A
1 paper
NM_001352514.2
p.G234R
c.700G>C
1 paper
NM_001352514.2
p.G234R
c.700G>A
1 paper
NM_000411.8
p.R91delFs
c.271delT
1 paper
NM_001352514.2
p.M205R
c.614T>G
1 paper
NM_000411.8
p.M58L
c.172A>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."