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.




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