Varaico: Literature-Extracted Genetic Variants

Gene:CMAS
Variant:p.Q231_G232Splc

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.Q231_G232Splc
c.694-1G>A
Surrounding Variants
1 paper
NM_018686.6
p.Y238Y
c.714C>T
1 paper
NM_018686.6
p.I275R
c.824T>G
1 paper
NM_018686.6
p.G295A
c.884G>C
1 paper
NM_018686.6
p.S302A
c.904T>G
1 paper
NM_018686.6
p.V321G
c.962T>G
1 paper
NM_018686.6
p.R322G
c.964A>G
1 paper
NM_018686.6
p.G362S
c.1084G>A
1 paper
NM_018686.6
p.L224F
c.672G>C
1 paper
NM_018686.6
p.L224F
c.672G>T
1 paper
NM_018686.6
p.A220V
c.659C>T
1 paper
NM_018686.6
p.R204*
c.610C>T
1 paper
NM_018686.6
p.R201W
c.601C>T
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