Varaico: Literature-Extracted Genetic Variants

Gene:ZCCHC8
Variant:p.A65G

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.A65G
c.194C>G
Surrounding Variants
1 paper
NM_017612.5
p.E66K
c.196G>A
1 paper
NM_017612.5
p.A47P
c.139G>C
2 papers
NM_017612.5
p.E20K
c.58G>A
1 paper
NM_017612.5
p.Q68R
c.203A>G
1 paper
NM_017612.5
p.L70F
c.208C>T
1 paper
NM_017612.5
p.P80L
c.239C>T
1 paper
NM_017612.5
p.S81Splc
c.243-3T>C
4 papers
NM_017612.5
p.L90*
c.269T>G
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
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