Varaico: Literature-Extracted Genetic Variants

Gene:RTCA
Variant:p.Q18L

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.Q18L
c.53A>T
Surrounding Variants
1 paper
NM_003729.4
p.G17C
c.49G>T
1 paper
NM_003729.4
p.S23C
c.68C>G
1 paper
NM_003729.4
p.S23F
c.68C>T
1 paper
NM_003729.4
p.C28*
c.84T>A
1 paper
NM_003729.4
p.V36M
c.106G>A
2 papers
NM_003729.4
p.K38insFs
c.112_113insA
1 paper
NM_003729.4
p.R40P
c.119G>C
1 paper
NM_003729.4
p.G42insFs
c.124_125ins8
1 paper
NM_003729.4
p.G15A
c.44G>C
1 paper
NM_003729.4
p.E14A
c.41A>C
1 paper
NM_003729.4
p.V6G
c.17T>G
1 paper
NM_003729.4
p.R5R
c.15G>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."