Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC2
Variant:p.M40T

EXOSC2

51 papers

Pfam Domains

ECR1_Naa 26–63UCSCExosome complex exonuclease RRP4 N-terminal region
S1_RRP4aa 75–147UCSCRRP4, S1 domain
KH_6aa 169–211UCSCKH domain

Gene Aliases

HGNC Name

exosome component 2

HGNC Alias Symbols

hRrp4p; Rrp4p; RRP4; p7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014285.7
p.M40T
c.119T>C
Surrounding Variants
1 paper
NM_014285.7
p.I33I
c.99C>T
1 paper
NM_014285.7
p.D31E
c.93T>A
12 papers
NM_014285.7
p.G30V
c.89G>T
1 paper
NM_014285.7
p.P29delFs
c.87delG
1 paper
NM_014285.7
p.E16D
c.48G>C
1 paper
NM_014285.7
p.E16D
c.48G>T
2 papers
NM_014285.7
p.L14P
c.41T>C
2 papers
NM_014285.7
p.P8A
c.22C>G
1 paper
NM_014285.7
p.L7F
c.19C>T
1 paper
NM_014285.7
p.R6delFs
c.18delG
1 paper
NM_014285.7
p.R6fs
c.16_17fs
1 paper
NM_014285.7
p.E4K
c.10G>A
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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."