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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RSPH14

Variant:p.G126delFs

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr22:23134068 TC>T

NM_014433.3

p.G126delFs

c.378delC

exact variant not in gnomAD15 overlapping SVs

Surrounding Variants

1 paper

chr22:23134066 G>GN

NM_014433.3

p.N127fs

c.379_380fs

exact variant not in gnomAD15 overlapping SVs

1 paper

chr22:23138892 G>A

NM_014433.3

p.R84C

c.250C>T

Exome: 0.0% (AC=83, hom=0)Genome: 0.0% (AC=15, hom=0)12 overlapping SVs

1 paper

chr22:23138931 T>A

NM_014433.3

p.N71Y

c.211A>T

Exome: n/aGenome: 0.0% (AC=0, hom=0)12 overlapping SVs

1 paper

chr22:23140296 G>A

NM_014433.3

p.T42M

c.125C>T

Exome: 14.6% (AC=212906, hom=16432)Genome: 11.1% (AC=16951, hom=1157)12 overlapping SVs

1 paper

chr22:23124893 C>T

NM_014433.3

p.G141Splc

c.421+9133G>A

Exome: 53.8% (AC=254, hom=62)Genome: 48.5% (AC=73753, hom=18524)11 overlapping SVs

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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."