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

1–12 of 426 variants

36 papers

NM_001382508.1

p.E1147K

c.3439G>A

8 papers

NM_001382508.1

p.P100L

c.299C>T

8 papers

NM_001382508.1

p.D1151G

c.3452A>G

7 papers

NM_001382508.1

p.E993K

c.2977G>A

6 papers

NM_001382508.1

p.K226E

c.676A>G

6 papers

NM_001382508.1

p.R279L

c.836G>T

6 papers

NM_001382508.1

p.S321L

c.962C>T

6 papers

NM_001382508.1

p.D1151Y

c.3451G>T

6 papers

NM_001382508.1

p.Q1187K

c.3559C>A

5 papers

NM_001382508.1

p.P32L

c.95C>T

5 papers

NM_001382508.1

p.Q46*

c.136C>T

5 papers

NM_001382508.1

p.R414*

c.1240C>T