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

8 papers

NM_001382508.1

p.P100L

c.299C>T

Surrounding Variants

2 papers

NM_001382508.1

p.R99G

c.295A>G

1 paper

NM_001382508.1

p.F102L

c.306C>G

1 paper

NM_001382508.1

p.P103S

c.307C>T

1 paper

NM_001382508.1

p.P103P

c.309C>T

1 paper

NM_001382508.1

p.C96fs

c.286_287fs

1 paper

NM_001382508.1

p.Q90E

c.268C>G

1 paper

NM_001382508.1

p.F111F

c.333C>T

1 paper

NM_001382508.1

p.P112L

c.335C>T

1 paper

NM_001382508.1

p.V113I

c.337G>A

1 paper

NM_001382508.1

p.F117V

c.349T>G

1 paper

NM_001382508.1

p.P83L

c.248C>T

1 paper

NM_001382508.1

p.P80_P82delFs

c.239_245del7