Varaico: Literature-Extracted Genetic Variants

Gene:CCHCR1

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
1–12 of 107 variants
9 papers
NM_001105564.2
p.W78*
c.234G>A
8 papers
NM_001105564.2
p.E41*
c.121G>T
8 papers
NM_001105564.2
p.W78*
c.233G>A
5 papers
NM_001105564.2
p.E364D
c.1092A>C
4 papers
NM_001105564.2
p.E364D
c.1092A>T
4 papers
NM_001105564.2
p.R716Q
c.2147G>A
2 papers
NM_001105564.2
p.P109S
c.325C>T
2 papers
NM_001105564.2
p.R192P
c.575G>C
2 papers
NM_001105564.2
p.G234A
c.701G>C
2 papers
NM_001105564.2
p.L268Q
c.803T>A
2 papers
NM_001105564.2
p.R417W
c.1249A>T
2 papers
NM_001105564.2
p.A628S
c.1882G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."