Varaico: Literature-Extracted Genetic Variants

Gene:HEATR3
Variant:p.T592I

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
1 paper
NM_182922.4
p.T592I
c.1775C>T
Surrounding Variants
1 paper
NM_182922.4
p.V599I
c.1795G>A
3 papers
NM_182922.4
p.G584E
c.1751G>A
2 papers
NM_182922.4
p.L626*
c.1877T>A
1 paper
NM_182922.4
p.E632Q
c.1894G>C
1 paper
NM_182922.4
p.V569I
c.1705G>A
1 paper
NM_182922.4
p.I565F
c.1693A>T
2 papers
NM_182922.4
p.L563I
c.1687T>A
1 paper
NM_182922.4
p.I562V
c.1684A>G
1 paper
NM_182922.4
p.S551R
c.1653T>A
1 paper
NM_182922.4
p.S551R
c.1653T>G
1 paper
NM_182922.4
p.S551R
c.1651A>C
1 paper
NM_182922.4
p.C544R
c.1630T>C
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