Varaico: Literature-Extracted Genetic Variants

Gene:COL4A2
Variant:p.V1399I
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COL4A2

NM_001846.4:p.V1399I

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia.

Ten Kate CA et al.

Birth Defects Research, 2020

NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.

Wang B et al.

Scientific Reports, 2018

29662108 (PubMed )
Supplement: 41598_2018_24286_MOESM1_ESM.pdf

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0CT-01A.domain

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

Jeanne M et al.

American Journal of Human Genetics, 2012

Genomic analysis of 21 patients with corneal neuralgia after refractive surgery.

Yuan JH et al.

Pain Reports, 0

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