Varaico: Literature-Extracted Genetic Variants

Gene:DGCR8
Variant:p.G217V

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.G217V
c.650G>T
Surrounding Variants
1 paper
NM_022720.7
p.A216T
c.646G>A
2 papers
NM_022720.7
p.E213*
c.637G>T
1 paper
NM_022720.7
p.I224I
c.672C>T
1 paper
NM_022720.7
p.V225delFs
c.673delG
1 paper
NM_022720.7
p.V225I
c.673G>A
2 papers
NM_022720.7
p.V225fs
c.673_674fs
1 paper
NM_022720.7
p.Q226Q
c.678G>A
1 paper
NM_022720.7
p.D228N
c.682G>A
1 paper
NM_022720.7
p.R229_V230delFs
c.687_688delAG
1 paper
NM_022720.7
p.D200D
c.600T>C
1 paper
NM_022720.7
p.A197V
c.590C>T
1 paper
NM_022720.7
p.Y239*
c.717C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."