Varaico: Literature-Extracted Genetic Variants

Gene:ZCCHC8
Variant:p.P186L

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
8 papers
NM_017612.5
p.P186L
c.557C>T
Surrounding Variants
1 paper
NM_017612.5
p.G184E
c.551G>A
1 paper
NM_017612.5
p.Q193fs
c.577_578fs
1 paper
NM_017612.5
p.L194fs
c.580_581fs
3 papers
NM_017612.5
p.E196K
c.586G>A
1 paper
NM_017612.5
p.G170E
c.509G>A
1 paper
NM_017612.5
p.G170R
c.508G>C
1 paper
NM_017612.5
p.G170R
c.508G>A
1 paper
NM_017612.5
p.H204Q
c.612T>G
1 paper
NM_017612.5
p.H204Q
c.612T>A
1 paper
NM_017612.5
p.S208G
c.622A>G
1 paper
NM_017612.5
p.S212P
c.634T>C
1 paper
NM_017612.5
p.G215V
c.644G>T
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