Varaico: Literature-Extracted Genetic Variants

Gene:RTCA
Variant:p.Q51P

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
1 paper
NM_003729.4
p.Q51P
c.152A>C
Surrounding Variants
1 paper
NM_003729.4
p.H52N
c.154C>A
1 paper
NM_003729.4
p.H52P
c.155A>C
1 paper
NM_003729.4
p.H52Q
c.156T>A
1 paper
NM_003729.4
p.H52Q
c.156T>G
1 paper
NM_003729.4
p.R60*
c.178C>T
1 paper
NM_003729.4
p.G65R
c.193G>A
1 paper
NM_003729.4
p.G65R
c.193G>C
1 paper
NM_003729.4
p.G65A
c.194G>C
2 papers
NM_003729.4
p.E71G
c.212A>G
1 paper
NM_003729.4
p.G73D
c.218G>A
1 paper
NM_003729.4
p.T75T
c.225A>G
1 paper
NM_003729.4
p.T80K
c.239C>A
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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."