Varaico: Literature-Extracted Genetic Variants

Gene:CTPS1
Variant:p.V226L

CTPS1

75 papers

RefSeq Summary

This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipid...

Pfam Domains

CTP_synth_Naa 1–116UCSCCTP synthase N-terminus
GATaseaa 153–388UCSCGlutamine amidotransferase class-I

Gene Aliases

HGNC Name

CTP synthase 1

HGNC Alias Symbol

GATD5A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001905.4
p.V226L
c.676G>T
Surrounding Variants
1 paper
NM_001905.4
p.V226L
c.676G>C
1 paper
NM_001905.4
p.S225P
c.673T>C
1 paper
NM_001905.4
p.E228K
c.682G>A
2 papers
NM_001905.4
p.E228D
c.684G>C
2 papers
NM_001905.4
p.E228D
c.684G>T
1 paper
NM_001905.4
p.E237D
c.711G>T
1 paper
NM_001905.4
p.V183F
c.547G>T
1 paper
NM_001905.4
p.E173D
c.519G>C
1 paper
NM_001905.4
p.E173D
c.519G>T
1 paper
NM_001905.4
p.Q167Q
c.501A>G
1 paper
NM_001905.4
p.E155K
c.463G>A
1 paper
NM_001905.4
p.D153A
c.458A>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."