HR c.196C>T ;(p.P66S)

HR c.196C>T ;(p.P66S)

Variant ID: 8-21986488-G-A

NM_005144.4(HR):c.196C>T;(p.P66S)

This variant was identified in 2 publications

View GRCh38 version.

Variant-Specific Resource Links:

gnomAD v2.1.1

Mutalizer Name Checker

Google

UCSC Genome Browser

ClinVar

dbSNP

Publications:

The Dual Prey-Inactivation Strategy of Spiders-In-Depth Venomic Analysis of Cupiennius salei.

Toxins

Kuhn-Nentwig, Lucia L; Langenegger, Nicolas N; Heller, Manfred M; Koua, Dominique D; Nentwig, Wolfgang W

Publication Date: 2019-03-19

Variant appearance in text: HR: P66S

PubMed Link: 30893800

Variant Present in the following documents:

Main text

View BVdb publication page

Genotype-property patient-phenotype relations suggest that proteome exhaustion can cause amyotrophic lateral sclerosis.

Plos One

Kepp, Kasper P KP

Publication Date: 2015

Variant appearance in text: HR: P66S

PubMed Link: 25798606

Variant Present in the following documents:

pone.0118649.s001.pdf

View BVdb publication page