Varaico: Literature-Extracted Genetic Variants

Gene:CTPS2
Variant:p.Q524*

CTPS2

36 papers

RefSeq Summary

The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosi...

Pfam Domains

CTP_synth_Naa 2–272UCSCCTP synthase N-terminus
GATaseaa 309–545UCSCGlutamine amidotransferase class-I

Gene Aliases

HGNC Name

CTP synthase 2

HGNC Alias Symbol

GATD5B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_175859.3
p.Q524*
c.1570C>T
Surrounding Variants
1 paper
NM_175859.3
p.F520Y
c.1559T>A
1 paper
NM_175859.3
p.F529V
c.1585T>G
2 papers
NM_175859.3
p.P533L
c.1598C>T
1 paper
NM_175859.3
p.S537T
c.1609T>A
1 paper
NM_175859.3
p.N516Splc
c.1546+1G>C
1 paper
NM_175859.3
p.D503H
c.1507G>C
1 paper
NM_175859.3
p.P486S
c.1456C>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."