Varaico: Literature-Extracted Genetic Variants

Gene:DROSHA
Variant:p.E993K

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
7 papers
NM_001382508.1
p.E993K
c.2977G>A
Surrounding Variants
2 papers
NM_001382508.1
p.S990R
c.2970T>G
2 papers
NM_001382508.1
p.S990R
c.2970T>A
1 paper
NM_001382508.1
p.S990I
c.2969G>T
1 paper
NM_001382508.1
p.S990N
c.2969G>A
2 papers
NM_001382508.1
p.S990R
c.2968A>C
2 papers
NM_001382508.1
p.R1000Q
c.2999G>A
1 paper
NM_001382508.1
p.S981Splc
c.2942+306G>A
1 paper
NM_001382508.1
p.L979M
c.2935C>A
1 paper
NM_001382508.1
p.A974V
c.2921C>T
1 paper
NM_001382508.1
p.D973E
c.2919T>G
1 paper
NM_001382508.1
p.D973E
c.2919T>A
2 papers
NM_001382508.1
p.D973H
c.2917G>C
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