Varaico: Literature-Extracted Genetic Variants

Gene:DROSHA
Variant:p.R277C

DROSHA

357 papers

RefSeq Summary

This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA...

Pfam Domains

Helical_CED_Droshaaa 718–850UCSCRibonuclease 3, central domain, two antiparallel helical region
Ribonucleas_3_3aa 957–1072UCSCRibonuclease-III-like
Ribonuclease_3aa 1144–1233UCSCRibonuclease III domain
dsrmaa 1261–1332UCSCDouble-stranded RNA binding motif

Gene Aliases

HGNC Name

drosha ribonuclease III

HGNC Previous Symbol

RNASEN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001382508.1
p.R277C
c.829C>T
Surrounding Variants
4 papers
NM_001382508.1
p.R279C
c.835C>T
6 papers
NM_001382508.1
p.R279L
c.836G>T
1 paper
NM_001382508.1
p.R273I
c.818G>T
2 papers
NM_001382508.1
p.Y281Y
c.843C>T
1 paper
NM_001382508.1
p.D270insFs
c.810dupC
1 paper
NM_001382508.1
p.R271*
c.811C>T
1 paper
NM_001382508.1
p.R283Q
c.848G>A
1 paper
NM_001382508.1
p.D268E
c.804T>G
1 paper
NM_001382508.1
p.D268E
c.804T>A
1 paper
NM_001382508.1
p.Y265*
c.795C>G
1 paper
NM_001382508.1
p.Y265*
c.795C>A
2 papers
NM_001382508.1
p.D262G
c.785A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."