Varaico: Literature-Extracted Genetic Variants

Gene:DROSHA
Variant:p.R371H

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.R371H
c.1112G>A
Surrounding Variants
1 paper
NM_001382508.1
p.W372*
c.1115G>A
1 paper
NM_001382508.1
p.D370Y
c.1108G>T
1 paper
NM_001382508.1
p.W372*
c.1116G>A
1 paper
NM_001382508.1
p.E367K
c.1099G>A
1 paper
NM_001382508.1
p.W365*
c.1094G>A
1 paper
NM_001382508.1
p.R364H
c.1091G>A
2 papers
NM_001382508.1
p.R364C
c.1090C>T
1 paper
NM_001382508.1
p.G379S
c.1135G>A
1 paper
NM_001382508.1
p.G379G
c.1137C>G
1 paper
NM_001382508.1
p.R362_A363insT
c.1084_1088ins3
1 paper
NM_001382508.1
p.R358fs
c.1072_1073fs
1 paper
NM_001382508.1
p.P356fs
c.1066_1067fs
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