Varaico: Literature-Extracted Genetic Variants

Gene:HEATR3
Variant:p.P240L

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
Selected Variant
3 papers
NM_182922.4
p.P240L
c.719C>T
Surrounding Variants
1 paper
NM_182922.4
p.T251I
c.752C>T
1 paper
NM_182922.4
p.L203M
c.607C>A
1 paper
NM_182922.4
p.A270V
c.809C>T
1 paper
NM_182922.4
p.M286V
c.856A>G
2 papers
NM_182922.4
p.R302S
c.906G>C
2 papers
NM_182922.4
p.R302S
c.906G>T
1 paper
NM_182922.4
p.E328K
c.982G>A
1 paper
NM_182922.4
p.R337K
c.1010G>A
1 paper
NM_182922.4
p.A160D
c.479C>A
1 paper
NM_182922.4
p.D139_K149del11
c.415_446del33
3 papers
NM_182922.4
p.C134R
c.400T>C
2 papers
NM_182922.4
p.E133_C134Splc
c.399+1G>T
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."