Varaico: Literature-Extracted Genetic Variants

Gene:DROSHA
Variant:p.P83L

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.P83L
c.248C>T
Surrounding Variants
1 paper
NM_001382508.1
p.P80_P82delFs
c.239_245del7
1 paper
NM_001382508.1
p.P82H
c.245C>A
2 papers
NM_001382508.1
p.P82T
c.244C>A
1 paper
NM_001382508.1
p.P80fs
c.238_239fs
1 paper
NM_001382508.1
p.Q90E
c.268C>G
1 paper
NM_001382508.1
p.P76S
c.226C>T
1 paper
NM_001382508.1
p.P74Fs
c.222delinsTTFs
1 paper
NM_001382508.1
p.P73S
c.217C>T
1 paper
NM_001382508.1
p.N70S
c.209A>G
1 paper
NM_001382508.1
p.C96fs
c.286_287fs
1 paper
NM_001382508.1
p.P69_N70insG
c.205_209ins3
2 papers
NM_001382508.1
p.R99G
c.295A>G
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