Varaico: Literature-Extracted Genetic Variants

Gene:DROSHA
Variant:p.P32L

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
5 papers
NM_001382508.1
p.P32L
c.95C>T
Surrounding Variants
1 paper
NM_001382508.1
p.P32S
c.94C>T
1 paper
NM_001382508.1
p.S33F
c.98C>T
1 paper
NM_001382508.1
p.S33C
c.98C>G
1 paper
NM_001382508.1
p.P36L
c.107C>T
1 paper
NM_001382508.1
p.A27G
c.80C>G
1 paper
NM_001382508.1
p.Q37P
c.110A>C
1 paper
NM_001382508.1
p.G24E
c.71G>A
1 paper
NM_001382508.1
p.G23_G24insFs
c.69_70insG
1 paper
NM_001382508.1
p.L42V
c.124C>G
2 papers
NM_001382508.1
p.R22*
c.64C>T
1 paper
NM_001382508.1
p.P44P
c.132T>G
1 paper
NM_001382508.1
p.P19P
c.57C>T
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