Varaico: Literature-Extracted Genetic Variants

Gene:RPS26
Variant:p.H17Q

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
2 papers
NM_001029.5
p.H17Q
c.51C>G
Surrounding Variants
1 paper
NM_001029.5
p.H17Q
c.51C>A
1 paper
NM_001029.5
p.H17insFs
c.50dupA
1 paper
NM_001029.5
p.H17D
c.49C>G
1 paper
NM_001029.5
p.V18A
c.53T>C
1 paper
NM_001029.5
p.Q19*
c.55C>T
1 paper
NM_001029.5
p.P20delFs
c.58_59delCC
1 paper
NM_001029.5
p.P20del1
c.58_59delCCT
1 paper
NM_001029.5
p.R22C
c.64C>T
1 paper
NM_001029.5
p.C23S
c.67T>A
1 paper
NM_001029.5
p.C23Y
c.68G>A
1 paper
NM_001029.5
p.C23S
c.68G>C
1 paper
NM_001029.5
p.K12delFs
c.35delA
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