Varaico: Literature-Extracted Genetic Variants

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.P44P

c.132T>G

Surrounding Variants

5 papers

NM_001382508.1

p.Q46*

c.136C>T

1 paper

NM_001382508.1

p.P44_Q45del2

c.130_134del6

1 paper

NM_001382508.1

p.Q46H

c.138G>C

1 paper

NM_001382508.1

p.L42V

c.124C>G

1 paper

NM_001382508.1

p.P47fs

c.139_140fs

1 paper

NM_001382508.1

p.P48R

c.143C>G

1 paper

NM_001382508.1

p.Q50*

c.148C>T

1 paper

NM_001382508.1

p.V49_Q50delins

c.147_148delinsAT

1 paper

NM_001382508.1

p.Q37P

c.110A>C

1 paper

NM_001382508.1

p.P36L

c.107C>T

1 paper

NM_001382508.1

p.E54D

c.162A>T

1 paper

NM_001382508.1

p.E54D

c.162A>C