Varaico: Literature-Extracted Genetic Variants

Gene:CHLSN
Variant:p.K43_G44Splc

CHLSN

31 papers

Pfam Domains

WKFaa 104–166UCSCWKF domain

Gene Aliases

HGNC Name

cholesin

HGNC Previous Symbol

C7orf50

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001318252.2
p.K43_G44Splc
c.130-22856G>A
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."