Varaico: Literature-Extracted Genetic Variants

Gene:CCHCR1
Variant:p.R192P

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
2 papers
NM_001105564.2
p.R192P
c.575G>C
Surrounding Variants
2 papers
NM_019052.4
p.R102Q
c.305G>A
NM_001105564.2
p.R191Q
c.572G>A
1 paper
NM_001105564.2
p.L190L
c.568C>T
1 paper
NM_001105564.2
p.I183M
c.549C>G
1 paper
NM_001105564.2
p.M209L
c.625A>T
1 paper
NM_001105564.2
p.M209L
c.625A>C
1 paper
NM_001105564.2
p.R223L
c.668G>T
1 paper
NM_001105564.2
p.R229Q
c.686G>A
2 papers
NM_001105564.2
p.G234A
c.701G>C
1 paper
NM_001105564.2
p.A237T
c.709G>A
1 paper
NM_001105564.2
p.R246W
c.736C>T
1 paper
NM_001105564.2
p.N248D
c.742A>G
1 paper
NM_001105564.2
p.N248N
c.744C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."