Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC7
Variant:p.V212A

EXOSC7

26 papers

Pfam Domains

RNase_PHaa 31–166UCSC3' exoribonuclease family, domain 1
RNase_PH_Caa 196–262UCSC3' exoribonuclease family, domain 2

Gene Aliases

HGNC Name

exosome component 7

HGNC Alias Symbols

hRrp42p; Rrp42p; RRP42; EAP1; KIAA0116; p8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015004.4
p.V212A
c.635T>C
Surrounding Variants
3 papers
NM_015004.4
p.S229L
c.686C>T
1 paper
NM_015004.4
p.V230E
c.689T>A
1 paper
NM_015004.4
p.S232G
c.694A>G
1 paper
NM_015004.4
p.T237T
c.711G>A
1 paper
NM_015004.4
p.K244delFs
c.730delA
1 paper
NM_015004.4
p.R191L
c.572G>T
2 papers
NM_015004.4
p.S177S
c.531G>A
5 papers
NM_015004.4
p.V274L
c.820G>C
5 papers
NM_015004.4
p.V274L
c.820G>T
1 paper
NM_015004.4
p.L148V
c.442T>G
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