Varaico: Literature-Extracted Genetic Variants

Gene:CCHCR1
Variant:p.Q575H

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.Q575H
c.1725G>C
Surrounding Variants
1 paper
NM_001105564.2
p.Q575H
c.1725G>T
1 paper
NM_001105564.2
p.A574A
c.1722T>C
1 paper
NM_001105564.2
p.R569R
c.1705C>A
1 paper
NM_001105564.2
p.G565Splc
c.1694-6C>T
1 paper
NM_001105564.2
p.Q595L
c.1784A>T
1 paper
NM_001105564.2
p.R601L
c.1802G>T
1 paper
NM_001105564.2
p.R601Q
c.1802G>A
1 paper
NM_001105564.2
p.Q609P
c.1826A>C
1 paper
NM_001105564.2
p.S611N
c.1832G>A
1 paper
NM_001105564.2
p.R558C
c.1672C>T
1 paper
NM_001105564.2
p.V557L
c.1669G>C
1 paper
NM_001105564.2
p.Y555D
c.1663T>G
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."