Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0930
Variant:p.M230L

KIAA0930

16 papers

Pfam Domains

DUF2045aa 28–261UCSCUncharacterized conserved protein (DUF2045)

Gene Aliases

HGNC Previous Symbol

C22orf9

HGNC Alias Symbol

bK268H5.C22.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001009880.2
p.M230L
c.688A>T
Surrounding Variants
1 paper
NM_001009880.2
p.M230L
c.688A>C
1 paper
NM_001009880.2
p.R244C
c.730C>T
1 paper
NM_001009880.2
p.M245I
c.735G>T
1 paper
NM_001009880.2
p.M245I
c.735G>C
1 paper
NM_001009880.2
p.M245I
c.735G>A
1 paper
NM_001009880.2
p.Q249*
c.745C>T
1 paper
NM_001009880.2
p.Q249K
c.745C>A
1 paper
NM_001009880.2
p.D265Y
c.793G>T
1 paper
NM_001009880.2
p.S206P
c.616T>C
2 papers
NM_015264.2
p.D104N
c.310G>A
NM_001009880.2
p.D99N
c.295G>A
1 paper
NM_001009880.2
p.G94R
c.280G>C
1 paper
NM_001009880.2
p.G94R
c.280G>A
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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."