Varaico: Literature-Extracted Genetic Variants

Gene:CHTOP
Variant:p.L126Q

CHTOP

64 papers

RefSeq Summary

This gene encodes a small nuclear protein that is characterized by an arginine and glycine rich region. This protein may have an important role in the regulation of fetal globin gene expression and in...

Pfam Domains

FoP_duplicationaa 165–243UCSCC-terminal duplication domain of Friend of PRMT1

Gene Aliases

HGNC Name

chromatin target of PRMT1

HGNC Previous Symbol

C1orf77

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015607.4
p.L126Q
c.377T>A
Surrounding Variants
1 paper
NM_015607.4
p.R118G
c.352C>G
1 paper
NM_015607.4
p.L117V
c.349C>G
1 paper
NM_015607.4
p.P113H
c.338C>A
1 paper
NM_015607.4
p.R103Q
c.308G>A
1 paper
NM_015607.4
p.I92M
c.276A>G
1 paper
NM_015607.4
p.I92V
c.274A>G
1 paper
NM_015607.4
p.R90*
c.268C>T
1 paper
NM_015607.4
p.S82T
c.245G>C
1 paper
NM_015607.4
p.R78H
c.233G>A
1 paper
NM_015607.4
p.Q73_S74Splc
c.220-7C>T
1 paper
NM_015607.4
p.Q73_S74Splc
c.220-10C>T
3 papers
NM_015607.4
p.R143G
c.427C>G
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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."