Varaico: Literature-Extracted Genetic Variants

Gene:ZCCHC8
Variant:p.L90*

ZCCHC8

82 papers

RefSeq Summary

This gene encodes a scaffold protein which serves as an assessory factor to the nuclear RNA exosome complex. The encoded protein forms a trimeric human nuclear exosome targeting (NEXT) complex, togeth...

Pfam Domains

zf-CCHCaa 227–244UCSCZinc knuckle
PSPaa 287–335UCSCPSP

Gene Aliases

HGNC Name

zinc finger CCHC-type containing 8

HGNC Alias Symbol

DKFZp434E2220

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_017612.5
p.L90*
c.269T>G
Surrounding Variants
4 papers
NM_017612.5
p.L90*
c.269T>A
1 paper
NM_017612.5
p.G92G
c.276A>T
1 paper
NM_017612.5
p.I94L
c.280A>T
1 paper
NM_017612.5
p.I94L
c.280A>C
1 paper
NM_017612.5
p.P93delFs
c.278_279delAG
1 paper
NM_017612.5
p.S81Splc
c.243-3T>C
1 paper
NM_017612.5
p.K106Splc
c.317+2T>C
1 paper
NM_017612.5
p.K106Splc
c.318-1G>T
1 paper
NM_017612.5
p.Y108N
c.322T>A
2 papers
NM_017612.5
p.E113K
c.337G>A
1 paper
NM_017612.5
p.F115V
c.343T>G
1 paper
NM_017612.5
p.F115L
c.343T>C
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