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EHBP1 c.278T>A ;(p.F93Y)
Variant ID: 2-62998493-T-A
NM_001142616.1(
EHBP1
):c.278T>A;(p.F93Y)
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:
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.
Signal Transduction And Targeted Therapy
Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y
Publication Date: 2021-02-10
Variant appearance in text: EHBP1: Phe93Tyr
PubMed Link:
33563892
Variant Present in the following documents:
41392_2020_412_MOESM3_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: EHBP1: F93Y
PubMed Link:
27001614
Variant Present in the following documents:
NIHMS753666-supplement-2.xlsx, sheet 10
View BVdb publication page