PKHD1 c.11800G>A ;(p.V3934I)

Variant ID: 6-51484304-C-T

NM_138694.3(PKHD1):c.11800G>A;(p.V3934I)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Utilizing phenotypic characteristics of metastatic brain tumors to improve the probability of detecting circulating tumor DNA from cerebrospinal fluid in non-small-cell lung cancer patients: development and validation of a prediction model in a prospective cohort study.

Esmo Open
Li, M M; Hou, X X; Zheng, L L; Ma, Y Y; Li, D D; Lv, Y Y; Chen, J J; Zheng, W W; Shao, Y Y; Mou, Y Y; Chen, L L
Publication Date: 2022-02

Variant appearance in text: PKHD1: V3934I
PubMed Link: 34922300
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: PKHD1: 11800G>A; V3934I; rs149111536
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine
Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M
Publication Date: 2018-04-09

Variant appearance in text: PKHD1: V3934I
PubMed Link: 29642553
Variant Present in the following documents:
  • Main text
  • jpm-08-00013.pdf
View BVdb publication page



Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18

Variant appearance in text: PKHD1: V3934I; rs149111536
PubMed Link: 28716134
Variant Present in the following documents:
  • 13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: PKHD1: V3934I; rs149111536
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 7
View BVdb publication page