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JAK2 c.937G>C ;(p.D313H)
Variant ID: 9-5055669-G-C
NM_004972.3(
JAK2
):c.937G>C;(p.D313H)
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:
Trypanosomatid Deoxyhypusine Synthase Activity Is Dependent on Shared Active-Site Complementation between Pseudoenzyme Paralogs.
Structure (London, England : 1993)
Afanador, Gustavo A GA; Tomchick, Diana R DR; Phillips, Margaret A MA
Publication Date: 2018-11-06
Variant appearance in text: JAK2: D313h
PubMed Link:
30197036
Variant Present in the following documents:
Main text
View BVdb publication page