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HR c.937_938delinsCA ;(p.R313Q)
Variant ID: 8-21985017-CT-TG
NM_005144.4(
HR
):c.937_938delinsCA;(p.R313Q)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structure and Membrane Binding Properties of the Endosomal Tetratricopeptide Repeat (TPR) Domain-containing Sorting Nexins SNX20 and SNX21.
The Journal Of Biological Chemistry
Clairfeuille, Thomas T; Norwood, Suzanne J SJ; Qi, Xiaying X; Teasdale, Rohan D RD; Collins, Brett M BM
Publication Date: 2015-06-05
Variant appearance in text: HR: R313Q
PubMed Link:
25882846
Variant Present in the following documents:
Main text
View BVdb publication page