Varaico: Literature-Extracted Genetic Variants

Gene:CCHCR1
Variant:p.Q128*

CCHCR1

117 papers

RefSeq Summary

This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes...

Pfam Domains

HCRaa 27–773UCSCAlpha helical coiled-coil rod protein (HCR)

Gene Aliases

HGNC Name

coiled-coil alpha-helical rod protein 1

HGNC Previous Symbol

C6orf18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001105564.2
p.Q128*
c.382C>T
Surrounding Variants
1 paper
NM_001105564.2
p.R138S
c.414G>T
1 paper
NM_001105564.2
p.R138S
c.414G>C
2 papers
NM_001105564.2
p.P109S
c.325C>T
1 paper
NM_001105564.2
p.R164S
c.492A>T
1 paper
NM_001105564.2
p.R164S
c.492A>C
1 paper
NM_001105564.2
p.S94*
c.281C>G
1 paper
NM_001105564.2
p.S94*
c.281C>A
1 paper
NM_001105564.2
p.E83Q
c.247G>C
9 papers
NM_001105564.2
p.W78*
c.234G>A
8 papers
NM_001105564.2
p.W78*
c.233G>A
1 paper
NM_001105564.2
p.R72_G73insFs
c.216_217insA
1 paper
NM_001105564.2
p.S63delFs
c.187delT
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