Varaico: Literature-Extracted Genetic Variants

Gene:SASH1
Variant:p.R644W
Back to variants list

SASH1

NM_015278.5:p.R644W

Associated Papers

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.

Okamura K et al.

The Journal of Dermatology, 2025

Dyschromatosis universalis hereditaria with SASH1 mutation improved with picosecond laser treatment.

Yuan L et al.

Skin Health and Disease, 2025

SASH1 S519N Variant Links Skin Hyperpigmentation and Premature Hair Graying to Dysfunction of Melanocyte Lineage.

Lambert KA et al.

The Journal of Investigative Dermatology, 2025

Case report: Clinicopathological characteristics of SASH1 mutation-related dyschromatosis: a rethinking of the classification of dyschromatosis.

Wang T et al.

Frontiers in Genetics, 2025

SASH1 interacts with TNKS2 and promotes human melanocyte stem cell maintenance.

Lambert KA et al.

Biorxiv : the Preprint Server for Biology, 2023

Solution NMR backbone assignment of the SASH1 SLy proteins associated disordered region (SPIDER).

Clements CM et al.

Biomolecular Nmr Assignments, 2023

SAM1 domain of SASH1 harbors distinctive structural heterogeneity.

Clements CM et al.

Journal of Structural Biology, 2022

Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria.

Cao L et al.

Bmc Medical Genomics, 2021

Five novel mutations in SASH1 contribute to lentiginous phenotypes in Japanese families.

Araki Y et al.

Pigment Cell & Melanoma Research, 2021

Genetic and phenotypic heterogeneity of multiple lentigines and precise diagnosis in four Chinese families with multiple lentigines.

Guo K et al.

Pigment Cell & Melanoma Research, 0

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."