Varaico: Literature-Extracted Genetic Variants

Gene:RTCA
Variant:p.V175L

RTCA

69 papers

RefSeq Summary

This gene encodes a member of the RNA 3'-phosphate cyclase family. The encoded protein plays a role in RNA metabolism by catalyzing the ATP-dependent conversion of the 3'-phosphate of RNA substrates t...

Pfam Domains

RTCaa 12–338UCSCRNA 3'-terminal phosphate cyclase
RTC_insertaa 184–286UCSCRNA 3'-terminal phosphate cyclase (RTC), insert domain

Gene Aliases

HGNC Name

RNA 3'-terminal phosphate cyclase

HGNC Previous Symbol

RTCD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003729.4
p.V175L
c.523G>C
Surrounding Variants
1 paper
NM_003729.4
p.Y160insFs
c.479dupA
1 paper
NM_003729.4
p.T190I
c.569C>T
1 paper
NM_003729.4
p.P203L
c.608C>T
1 paper
NM_003729.4
p.K208R
c.623A>G
2 papers
NM_003729.4
p.A212G
c.635C>G
1 paper
NM_003729.4
p.E221G
c.662A>G
1 paper
NM_003729.4
p.Q233*
c.697C>T
1 paper
NM_003729.4
p.D237E
c.711C>A
1 paper
NM_003729.4
p.D237E
c.711C>G
1 paper
NM_003729.4
p.K156E
c.466A>G
1 paper
NM_003729.4
p.F149del1
c.445_446delTTC
1 paper
NM_003729.4
p.I143V
c.427A>G
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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."