Varaico: Literature-Extracted Genetic Variants

Gene:RPS26
Variant:p.C74*

RPS26

115 papers

RefSeq Summary

This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia ...

Pfam Domains

Ribosomal_S26eaa 1–107UCSCRibosomal protein S26e

Gene Aliases

HGNC Name

ribosomal protein S26

HGNC Alias Symbols

S26; eS26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001029.5
p.C74*
c.222T>A
Surrounding Variants
3 papers
NM_001029.5
p.C74S
c.221G>C
1 paper
NM_001029.5
p.C74F
c.221G>T
2 papers
NM_001029.5
p.C74S
c.220T>A
1 paper
NM_001029.5
p.C74_V75delFs
c.222_225del4
1 paper
NM_001029.5
p.C77Y
c.230G>A
5 papers
NM_001029.5
p.C77W
c.231T>G
1 paper
NM_001029.5
p.A78_V84del0
c.233_250del18
1 paper
NM_001029.5
p.L71fs
c.211_212fs
1 paper
NM_001029.5
p.S81delFs
c.243delC
1 paper
NM_001029.5
p.K66R
c.197A>G
1 paper
NM_001029.5
p.P65P
c.195C>G
1 paper
NM_001029.5
p.K66_V69delFs
c.196_206del11
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."