Varaico: Literature-Extracted Genetic Variants

Gene:HEATR3
Variant:p.D394N

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.D394N
c.1180G>A
Surrounding Variants
1 paper
NM_182922.4
p.S388F
c.1163C>T
3 papers
NM_182922.4
p.G405R
c.1213G>A
3 papers
NM_182922.4
p.G405R
c.1213G>C
2 papers
NM_182922.4
p.G406*
c.1216G>T
1 paper
NM_182922.4
p.H416R
c.1247A>G
1 paper
NM_182922.4
p.D378Y
c.1132G>T
1 paper
NM_182922.4
p.I370T
c.1109T>C
1 paper
NM_182922.4
p.E355G
c.1064A>G
1 paper
NM_182922.4
p.E352Q
c.1054G>C
1 paper
NM_182922.4
p.I431T
c.1292T>C
1 paper
NM_182922.4
p.A436V
c.1307C>T
2 papers
NM_182922.4
p.A442E
c.1325C>A
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