Varaico: Literature-Extracted Genetic Variants

Gene:HEATR3
Variant:p.C20Y

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.C20Y
c.59G>A
Surrounding Variants
1 paper
NM_182922.4
p.C20*
c.60T>A
1 paper
NM_182922.4
p.A22T
c.64G>A
1 paper
NM_182922.4
p.Q13L
c.38A>T
1 paper
NM_182922.4
p.R11Q
c.32G>A
1 paper
NM_182922.4
p.R11*
c.31C>T
1 paper
NM_182922.4
p.K7E
c.19A>G
1 paper
NM_182922.4
p.A40V
c.119C>T
1 paper
NM_182922.4
p.L44L
c.132G>C
1 paper
NM_182922.4
p.K46_L47Splc
c.139-26C>G
1 paper
NM_182922.4
p.L47_P50delFs
c.139_149del11
1 paper
NM_182922.4
p.L47fs
c.139_140fs
1 paper
NM_182922.4
p.S51G
c.151A>G
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