Varaico: Literature-Extracted Genetic Variants

Gene:DGCR8
Variant:p.E593V

DGCR8

206 papers

RefSeq Summary

This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein ...

Pfam Domains

dsrmaa 512–576UCSCDouble-stranded RNA binding motif
dsrmaa 512–576UCSCDouble-stranded RNA binding motif
dsrmaa 620–684UCSCDouble-stranded RNA binding motif
dsrmaa 620–684UCSCDouble-stranded RNA binding motif

Gene Aliases

HGNC Name

DGCR8 microprocessor complex subunit

HGNC Previous Symbol

C22orf12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022720.7
p.E593V
c.1778A>T
Surrounding Variants
1 paper
NM_022720.7
p.D591E
c.1773C>A
1 paper
NM_022720.7
p.D591E
c.1773C>G
1 paper
NM_022720.7
p.D591H
c.1771G>C
3 papers
NM_022720.7
p.K588R
c.1763A>G
1 paper
NM_022720.7
p.S585C
c.1754C>G
1 paper
NM_022720.7
p.T584_S585delFs
c.1752_1755del4
1 paper
NM_022720.7
p.Q583R
c.1748A>G
1 paper
NM_022720.7
p.K582_Q583Fs
c.1746_1747delinsCFs
1 paper
NM_022720.7
p.I575N
c.1724T>A
1 paper
NM_022720.7
p.K562T
c.1685A>C
2 papers
NM_022720.7
p.A558T
c.1672G>A
1 paper
NM_022720.7
p.S545S
c.1635G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."