Varaico: Literature-Extracted Genetic Variants

Gene:DROSHA
Variant:p.R232S

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.R232S
c.696G>C
Surrounding Variants
1 paper
NM_001382508.1
p.H233Q
c.699C>G
2 papers
NM_001382508.1
p.H233Q
c.699C>A
1 paper
NM_001382508.1
p.R234*
c.700C>T
1 paper
NM_001382508.1
p.H236Y
c.706C>T
1 paper
NM_001382508.1
p.D229Y
c.685G>T
1 paper
NM_001382508.1
p.Y228C
c.683A>G
1 paper
NM_001382508.1
p.H238D
c.712C>G
6 papers
NM_001382508.1
p.K226E
c.676A>G
1 paper
NM_001382508.1
p.E223A
c.668A>C
1 paper
NM_001382508.1
p.H244D
c.730C>G
1 paper
NM_001382508.1
p.R245Q
c.734G>A
1 paper
NM_001382508.1
p.R219T
c.656G>C
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