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.D1151G

c.3452A>G

Surrounding Variants

3 papers

NM_001382508.1

p.D1151A

c.3452A>C

6 papers

NM_001382508.1

p.D1151Y

c.3451G>T

3 papers

NM_001382508.1

p.D1151H

c.3451G>C

1 paper

NM_001382508.1

p.D1151E

c.3453C>G

1 paper

NM_001382508.1

p.D1151E

c.3453C>A

1 paper

NM_001382508.1

p.I1153V

c.3457A>G

2 papers

NM_001382508.1

p.E1147V

c.3440A>T

36 papers

NM_001382508.1

p.E1147K

c.3439G>A

1 paper

NM_001382508.1

p.V1157L

c.3469G>T

1 paper

NM_001382508.1

p.V1157L

c.3469G>C

1 paper

NM_001382508.1

p.I1164fs

c.3490_3491fs

1 paper

NM_001382508.1

p.H1170Y

c.3508C>T