Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC6
Variant:p.A72T

EXOSC6

589 papers

RefSeq Summary

This gene product constitutes one of the subunits of the multisubunit particle called exosome, which mediates mRNA degradation. The composition of human exosome is similar to its yeast counterpart. Th...

Pfam Domains

RNase_PHaa 35–175UCSC3' exoribonuclease family, domain 1

Gene Aliases

HGNC Name

exosome component 6

HGNC Alias Symbols

MTR3; hMtr3p; Mtr3p; EAP4; p11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_058219.3
p.A72T
c.214G>A
Surrounding Variants
3 papers
NM_058219.3
p.A72V
c.215C>T
1 paper
NM_058219.3
p.A72insFs
c.215dupC
1 paper
NM_058219.3
p.G68_A72delFs
c.204_214del11
1 paper
NM_058219.3
p.R70R
c.210A>T
1 paper
NM_058219.3
p.R70Q
c.209G>A
1 paper
NM_058219.3
p.G74D
c.221G>A
1 paper
NM_058219.3
p.G75S
c.223G>A
1 paper
NM_058219.3
p.P69S
c.205C>T
1 paper
NM_058219.3
p.G68D
c.203G>A
1 paper
NM_058219.3
p.E76Q
c.226G>C
1 paper
NM_058219.3
p.E76K
c.226G>A
2 papers
NM_058219.3
p.E76V
c.227A>T
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