Varaico: Literature-Extracted Genetic Variants

Gene:RRP36
Variant:p.H192L

RRP36

24 papers

RefSeq Summary

RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et al., 2010 [PubMed 20038530]).[supplied by OMIM, Jul 2010].

Pfam Domains

RRP36aa 88–252UCSCrRNA biogenesis protein RRP36

Gene Aliases

HGNC Name

ribosomal RNA processing 36

HGNC Previous Symbol

C6orf153

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033112.4
p.H192L
c.575A>T
Surrounding Variants
1 paper
NM_033112.4
p.Q205*
c.613C>T
1 paper
NM_033112.4
p.L156F
c.468G>C
1 paper
NM_033112.4
p.L156F
c.468G>T
1 paper
NM_033112.4
p.R121C
c.361C>T
1 paper
NM_033112.4
p.K115_V116Splc
c.346-88G>C
1 paper
NM_033112.4
p.Q219H
c.657G>C
1 paper
NM_033112.4
p.Q219H
c.657G>T
1 paper
NM_033112.4
p.R231C
c.691C>T
1 paper
NM_033112.4
p.R252G
c.754A>G
1 paper
NM_033112.4
p.R102*
c.304C>T
1 paper
NM_033112.4
p.P94delFs
c.281delC
2 papers
NM_033112.4
p.A78G
c.233C>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."