Varaico: Literature-Extracted Genetic Variants

Gene:HEATR3

HEATR3

53 papers

RefSeq Summary

The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediate...

Pfam Domains

HEAT_EZaa 52–106UCSCHEAT-like repeat
TPR_SYO1aa 416–675UCSCSYO1-like, TPR repeats

Gene Aliases

HGNC Name

HEAT repeat containing 3

HGNC Alias Symbol

FLJ20718

Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
3 papers
NM_182922.4
p.C134R
c.400T>C
3 papers
NM_182922.4
p.P240L
c.719C>T
3 papers
NM_182922.4
p.G405R
c.1213G>A
3 papers
NM_182922.4
p.G405R
c.1213G>C
3 papers
NM_182922.4
p.C446Y
c.1337G>A
3 papers
NM_182922.4
p.G584E
c.1751G>A
3 papers
NM_182922.4
p.R642S
c.1924C>A
2 papers
NM_182922.4
p.E133_C134Splc
c.399+1G>T
2 papers
NM_182922.4
p.R302S
c.906G>C
2 papers
NM_182922.4
p.R302S
c.906G>T
2 papers
NM_182922.4
p.G406*
c.1216G>T
2 papers
NM_182922.4
p.A442E
c.1325C>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."