Varaico: Literature-Extracted Genetic Variants

Gene:CCHCR1
Variant:p.Q639H

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.Q639H
c.1917G>C
Surrounding Variants
1 paper
NM_001105564.2
p.Q639H
c.1917G>T
1 paper
NM_001105564.2
p.L640L
c.1918C>T
1 paper
NM_001105564.2
p.K635R
c.1904A>G
1 paper
NM_001105564.2
p.Q646K
c.1936C>A
1 paper
NM_001105564.2
p.Q648L
c.1943A>T
2 papers
NM_001105564.2
p.A628S
c.1882G>T
1 paper
NM_001105564.2
p.L656L
c.1966C>T
1 paper
NM_001105564.2
p.A661T
c.1981G>A
2 papers
NM_001105564.2
p.G664C
c.1990G>T
NM_019052.4
p.G575C
c.1723G>T
1 paper
NM_001105564.2
p.E667V
c.2000A>T
2 papers
NM_019052.4
p.R587W
c.1759C>T
NM_001105564.2
p.R676W
c.2026C>T
1 paper
NM_001105564.2
p.V619delFs
c.1856_1857delCA
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