Varaico: Literature-Extracted Genetic Variants

Gene:CMAS
Variant:p.G34R

CMAS

27 papers

RefSeq Summary

This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated g...

Pfam Domains

CTP_transf_3aa 46–301UCSCCytidylyltransferase

Gene Aliases

HGNC Name

cytidine monophosphate N-acetylneuraminic acid synthetase

HGNC Alias Names

CMP-Neu5Ac synthetase; N-acylneuraminate cytidylyltransferase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018686.6
p.G34R
c.100G>C
Surrounding Variants
1 paper
NM_018686.6
p.L48R
c.143T>G
2 papers
NM_018686.6
p.G17E
c.50G>A
1 paper
NM_018686.6
p.V90G
c.269T>G
1 paper
NM_018686.6
p.S112N
c.335G>A
1 paper
NM_018686.6
p.S122P
c.364T>C
1 paper
NM_018686.6
p.E128A
c.383A>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."