Varaico: Literature-Extracted Genetic Variants

Gene:NR2E1
Variant:p.N114D
Back to variants list

NR2E1

NM_003269.5:p.N114D

Associated Papers

Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6.

Winter H et al.

The Journal of Investigative Dermatology, 1999

Select a paper to view details
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."