Varaico: Literature-Extracted Genetic Variants

Gene:HEATR3
Variant:p.D116V

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.D116V
c.347A>T
Surrounding Variants
1 paper
NM_182922.4
p.A108V
c.323C>T
1 paper
NM_182922.4
p.K132delFs
c.395_396delAA
1 paper
NM_182922.4
p.K132fs
c.394_395fs
1 paper
NM_182922.4
p.K132*
c.394A>T
1 paper
NM_182922.4
p.K132fs
c.394_395fs
2 papers
NM_182922.4
p.E133_C134Splc
c.399+1G>T
3 papers
NM_182922.4
p.C134R
c.400T>C
1 paper
NM_182922.4
p.D139_K149del11
c.415_446del33
1 paper
NM_182922.4
p.A160D
c.479C>A
1 paper
NM_182922.4
p.T98S
c.293C>G
1 paper
NM_182922.4
p.A94T
c.280G>A
1 paper
NM_182922.4
p.L89I
c.265C>A
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