Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC2
Variant:p.L104M

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.L104M
c.310C>A
Surrounding Variants
1 paper
NM_014285.7
p.V98M
c.292G>A
1 paper
NM_014285.7
p.K97R
c.290A>G
2 papers
NM_014285.7
p.R87Q
c.260G>A
1 paper
NM_014285.7
p.E79A
c.236A>C
1 paper
NM_014285.7
p.A125E
c.374C>A
1 paper
NM_014285.7
p.E126K
c.376G>A
1 paper
NM_014285.7
p.S142_A143Splc
c.426+2T>G
1 paper
NM_014285.7
p.L66L
c.198G>A
1 paper
NM_014285.7
p.V63G
c.188T>G
2 papers
NM_014285.7
p.G58V
c.173G>T
2 papers
NM_014285.7
p.A143T
c.427G>A
1 paper
NM_014285.7
p.E50Q
c.148G>C
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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."