Varaico: Literature-Extracted Genetic Variants

Gene:HEATR3
Variant:p.G61Fs

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.G61Fs
c.181delinsCCCCCCFs
Surrounding Variants
1 paper
NM_182922.4
p.G61Fs
c.181delinsCCCCCCCCCCCFs
1 paper
NM_182922.4
p.A60V
c.179C>T
1 paper
NM_182922.4
p.C59delins
c.176delinsCCCCCCCCCCCCCCCC
1 paper
NM_182922.4
p.V66M
c.196G>A
1 paper
NM_182922.4
p.V66L
c.196G>C
1 paper
NM_182922.4
p.V66L
c.196G>T
1 paper
NM_182922.4
p.A52T
c.154G>A
1 paper
NM_182922.4
p.S51G
c.151A>G
1 paper
NM_182922.4
p.P73T
c.217C>A
1 paper
NM_182922.4
p.P73S
c.217C>T
1 paper
NM_182922.4
p.L47fs
c.139_140fs
1 paper
NM_182922.4
p.L47_P50delFs
c.139_149del11
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."