Varaico: Literature-Extracted Genetic Variants

Gene:DROSHA
Variant:p.A1218V

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.A1218V
c.3653C>T
Surrounding Variants
3 papers
NM_001382508.1
p.D1219G
c.3656A>G
4 papers
NM_001382508.1
p.E1222Q
c.3664G>C
2 papers
NM_001382508.1
p.E1222K
c.3664G>A
2 papers
NM_001382508.1
p.E1222G
c.3665A>G
2 papers
NM_001382508.1
p.E1222A
c.3665A>C
1 paper
NM_001382508.1
p.D1204E
c.3612C>G
1 paper
NM_001382508.1
p.D1204E
c.3612C>A
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.L1194R
c.3581T>G
1 paper
NM_001382508.1
p.A1191P
c.3571G>C
1 paper
NM_001382508.1
p.Q1187R
c.3560A>G
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