Varaico: Literature-Extracted Genetic Variants

Gene:NPPC
Variant:p.L64R

NPPC

26 papers

RefSeq Summary

This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cardiac natriuretic peptides CNP-53, CNP-29 and CNP-22, which belo...

Pfam Domains

ANPaa 96–126UCSCAtrial natriuretic peptide

Gene Aliases

HGNC Name

natriuretic peptide C

HGNC Previous Name

natriuretic peptide precursor C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024409.4
p.L64R
c.191T>G
Surrounding Variants
1 paper
NM_024409.4
p.G61V
c.182G>T
1 paper
NM_024409.4
p.G61D
c.182G>A
1 paper
NM_024409.4
p.S69*
c.206C>A
1 paper
NM_024409.4
p.G59fs
c.175_176fs
1 paper
NM_024409.4
p.R70L
c.209G>T
1 paper
NM_024409.4
p.A56V
c.167C>T
1 paper
NM_024409.4
p.D54Y
c.160G>T
1 paper
NM_024409.4
p.D74E
c.222C>G
1 paper
NM_024409.4
p.D74E
c.222C>A
1 paper
NM_024409.4
p.G53S
c.157G>A
2 papers
NM_024409.4
p.K52del1
c.154_155delCTT
1 paper
NM_024409.4
p.R76S
c.226C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."