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

6 papers

NM_001382508.1

p.S321L

c.962C>T

Surrounding Variants

1 paper

NM_001382508.1

p.S321*

c.962C>A

1 paper

NM_001382508.1

p.G319S

c.955G>A

2 papers

NM_001382508.1

p.P324A

c.970C>G

1 paper

NM_001382508.1

p.G335Fs

c.1003delinsGAFs

1 paper

NM_001382508.1

p.E336insFs

c.1007_1008insC

1 paper

NM_001382508.1

p.I338fs

c.1012_1013fs

1 paper

NM_001382508.1

p.I338delFs

c.1014delA

1 paper

NM_001382508.1

p.K339_T341delFs

c.1017_1021del5

1 paper

NM_001382508.1

p.A345A

c.1035C>A

1 paper

NM_001382508.1

p.I350M

c.1050T>G

1 paper

NM_001382508.1

p.I350delFs

c.1050delA

1 paper

NM_001382508.1

p.R354G

c.1060C>G