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HOXD13 c.964A>C ;(p.I322L)
Variant ID: 2-176959390-A-C
NM_000523.3(
HOXD13
):c.964A>C;(p.I322L)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: rs28928891
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: HOXD13: I322L
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page
Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.
Plos One
Dai, Limeng L; Liu, Dan D; Song, Min M; Xu, Xueqing X; Xiong, Gang G; Yang, Kang K; Zhang, Kun K; Meng, Hui H; Guo, Hong H; Bai, Yun Y
Publication Date: 2014
Variant appearance in text: HOXD13: 964A>C
PubMed Link:
24789103
Variant Present in the following documents:
Main text
pone.0096192.pdf
View BVdb publication page
Using bioinformatics to predict the functional impact of SNVs.
Bioinformatics (Oxford, England)
Cline, Melissa S MS; Karchin, Rachel R
Publication Date: 2011-02-15
Variant appearance in text: rs28928891
PubMed Link:
21159622
Variant Present in the following documents:
Main text
View BVdb publication page