Varaico: Literature-Extracted Genetic Variants

Gene:ZCCHC8
Variant:p.G300delFs

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
1 paper
NM_017612.5
p.G300delFs
c.899delC
Surrounding Variants
1 paper
NM_017612.5
p.Q296E
c.886C>G
1 paper
NM_017612.5
p.E294K
c.880G>A
1 paper
NM_017612.5
p.R312W
c.934C>T
1 paper
NM_017612.5
p.E278_V279del2
c.832_836del6
1 paper
NM_017612.5
p.E278_V279del1
c.833_835delCTT
1 paper
NM_017612.5
p.E278V
c.833A>T
1 paper
NM_017612.5
p.A276T
c.826G>A
1 paper
NM_017612.5
p.R273*
c.817C>T
1 paper
NM_017612.5
p.Q268fs
c.802_803fs
1 paper
NM_017612.5
p.C262*
c.786T>A
1 paper
NM_017612.5
p.Y258C
c.773A>G
1 paper
NM_017612.5
p.Y258N
c.772T>A
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