Varaico: Literature-Extracted Genetic Variants

Gene:CFAP157
Variant:p.V126L

CFAP157

23 papers

Gene Aliases

HGNC Name

cilia and flagella associated protein 157

HGNC Previous Symbol

C9orf117

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001012502.3
p.V126L
c.376G>C
Surrounding Variants
2 papers
NM_001012502.3
p.V126L
c.376G>T
1 paper
NM_001012502.3
p.R127_H128del2
c.379_383del6
1 paper
NM_001012502.3
p.R127_H128del1
c.381_383delCCA
1 paper
NM_001012502.3
p.A124G
c.371C>G
1 paper
NM_001012502.3
p.Q122H
c.366G>C
1 paper
NM_001012502.3
p.Q122H
c.366G>T
1 paper
NM_001012502.3
p.E115_K116del1
c.344_346delAGA
1 paper
NM_001012502.3
p.T139M
c.416C>T
1 paper
NM_001012502.3
p.E140V
c.419A>T
1 paper
NM_001012502.3
p.E97*
c.289G>T
1 paper
NM_001012502.3
p.Q71P
c.212A>C
1 paper
NM_001012502.3
p.R204C
c.610C>T
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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."