Varaico: Literature-Extracted Genetic Variants

Gene:CCHCR1
Variant:p.M434V

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.M434V
c.1300A>G
Surrounding Variants
1 paper
NM_001105564.2
p.R417K
c.1250G>A
1 paper
NM_001105564.2
p.L451L
c.1351C>T
2 papers
NM_001105564.2
p.R417W
c.1249A>T
1 paper
NM_001105564.2
p.P413S
c.1237C>T
1 paper
NM_001105564.2
p.L390insFs
c.1168_1169insC
5 papers
NM_019052.4
p.E275D
c.825A>T
NM_001105564.2
p.E364D
c.1092A>T
6 papers
NM_019052.4
p.E275D
c.825A>C
NM_001105564.2
p.E364D
c.1092A>C
1 paper
NM_001105564.2
p.V346V
c.1038G>C
1 paper
NM_001105564.2
p.T324I
c.971C>T
1 paper
NM_001105564.2
p.A304G
c.911C>G
1 paper
NM_019052.4
p.S192T
c.575G>C
1 paper
NM_001105564.2
p.L279R
c.836T>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."