Varaico: Literature-Extracted Genetic Variants

Gene:DROSHA
Variant:p.A135T

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.A135T
c.403G>A
Surrounding Variants
1 paper
NM_001382508.1
p.A135fs
c.403_404fs
1 paper
NM_001382508.1
p.P136delFs
c.408delA
1 paper
NM_001382508.1
p.A135_P137Fs
c.403_409delinsCCACTTFs
1 paper
NM_001382508.1
p.V132fs
c.394_395fs
1 paper
NM_001382508.1
p.P131insFs
c.392dupC
1 paper
NM_001382508.1
p.N128Y
c.382A>T
2 papers
NM_001382508.1
p.P143insFs
c.428dupC
1 paper
NM_001382508.1
p.M124V
c.370A>G
1 paper
NM_001382508.1
p.P123L
c.368C>T
1 paper
NM_001382508.1
p.P147S
c.439C>T
1 paper
NM_001382508.1
p.P121insFs
c.362_363insT
1 paper
NM_001382508.1
p.P149delins
c.445_446delinsTT
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