Varaico: Literature-Extracted Genetic Variants

Gene:CCHCR1
Variant:p.N248N

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.N248N
c.744C>T
Surrounding Variants
1 paper
NM_001105564.2
p.N248D
c.742A>G
1 paper
NM_001105564.2
p.R246W
c.736C>T
2 papers
NM_019052.4
p.S164R
c.490A>C
NM_001105564.2
p.S253R
c.757A>C
2 papers
NM_019052.4
p.S164R
c.492C>G
NM_001105564.2
p.S253R
c.759C>G
2 papers
NM_019052.4
p.S164R
c.492C>A
NM_001105564.2
p.S253R
c.759C>A
1 paper
NM_001105564.2
p.A237T
c.709G>A
2 papers
NM_001105564.2
p.G234A
c.701G>C
1 paper
NM_001105564.2
p.R229Q
c.686G>A
1 paper
NM_001105564.2
p.R223L
c.668G>T
1 paper
NM_001105564.2
p.Q267_L268Splc
c.801+37G>A
1 paper
NM_001105564.2
p.M209L
c.625A>T
1 paper
NM_001105564.2
p.M209L
c.625A>C
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