Varaico: Literature-Extracted Genetic Variants

Gene:RSPH14
Variant:p.G141V

RSPH14

20 papers

RefSeq Summary

This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and...

Pfam Domains

Armaa 220–255UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

radial spoke head 14 homolog

HGNC Previous Symbol

RTDR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014433.3
p.G141V
c.422G>T
Surrounding Variants
1 paper
NM_014433.3
p.E163G
c.488A>G
1 paper
NM_014433.3
p.C178F
c.533G>T
1 paper
NM_014433.3
p.L199P
c.596T>C
1 paper
NM_014433.3
p.R207C
c.619C>T
1 paper
NM_014433.3
p.R207H
c.620G>A
1 paper
NM_014433.3
p.A211T
c.631G>A
1 paper
NM_014433.3
p.P234A
c.700C>G
1 paper
NM_014433.3
p.K241*
c.721A>T
1 paper
NM_014433.3
p.T259K
c.776C>A
1 paper
NM_014433.3
p.A268V
c.803C>T
1 paper
NM_014433.3
p.M285I
c.855G>T
1 paper
NM_014433.3
p.M285I
c.855G>C
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."