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

1 paper

NM_001382508.1

p.S418*

c.1253C>A

Surrounding Variants

1 paper

NM_001382508.1

p.H417Y

c.1249C>T

1 paper

NM_001382508.1

p.N420H

c.1258A>C

1 paper

NM_001382508.1

p.R414del1

c.1240_1242delTCG

1 paper

NM_001382508.1

p.R414L

c.1241G>T

5 papers

NM_001382508.1

p.R414*

c.1240C>T

1 paper

NM_001382508.1

p.L408del1

c.1222_1224delAAG

1 paper

NM_001382508.1

p.D428H

c.1282G>C

1 paper

NM_001382508.1

p.D428N

c.1282G>A

2 papers

NM_001382508.1

p.E406Q

c.1216G>C

1 paper

NM_001382508.1

p.E402E

c.1206G>A

1 paper

NM_001382508.1

p.E402K

c.1204G>A

1 paper

NM_001382508.1

p.P397S

c.1189C>T