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.Q1187K

c.3559C>A

Surrounding Variants

1 paper

NM_001382508.1

p.Q1187E

c.3559C>G

1 paper

NM_001382508.1

p.Q1187R

c.3560A>G

1 paper

NM_001382508.1

p.N1183delFs

c.3548delT

2 papers

NM_001382508.1

p.N1183fs

c.3547_3548fs

1 paper

NM_001382508.1

p.A1191P

c.3571G>C

1 paper

NM_001382508.1

p.V1182delFs

c.3546delC

1 paper

NM_001382508.1

p.L1194R

c.3581T>G

1 paper

NM_001382508.1

p.L1176F

c.3528G>T

1 paper

NM_001382508.1

p.L1176F

c.3528G>C

2 papers

NM_001382508.1

p.D1204Y

c.3610G>T

2 papers

NM_001382508.1

p.D1204N

c.3610G>A

1 paper

NM_001382508.1

p.D1204E

c.3612C>G