Varaico: Literature-Extracted Genetic Variants

Gene:CGGBP1
Variant:p.S143L

CGGBP1

17 papers

RefSeq Summary

This gene encodes a CGG repeat-binding protein that primarily localizes to the nucleus. CGG trinucleotide repeats are implicated in many disorders as they often act as transcription- and translation-r...

Gene Aliases

HGNC Name

CGG triplet repeat binding protein 1

HGNC Alias Symbol

p20-CGGBP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001008390.2
p.S143L
c.428C>T
Surrounding Variants
1 paper
NM_001008390.2
p.Q145*
c.433C>T
1 paper
NM_001008390.2
p.R147Q
c.440G>A
1 paper
NM_001008390.2
p.A149E
c.446C>A
1 paper
NM_001008390.2
p.V134V
c.402G>A
1 paper
NM_001008390.2
p.A128A
c.384T>G
1 paper
NM_001008390.2
p.N163S
c.488A>G
1 paper
NM_001008390.2
p.S164A
c.490T>G
1 paper
NM_001008390.2
p.D166G
c.497A>G
1 paper
NM_001008390.2
p.A114_N115insFs
c.342_343ins10
1 paper
NM_001008390.2
p.N115fs
c.343_344fs
1 paper
NM_001008390.2
p.V101A
c.302T>C
1 paper
NM_001008390.2
p.N78N
c.234T>C
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."