Varaico: Literature-Extracted Genetic Variants

Gene:NPPB

NPPB

233 papers

RefSeq Summary

This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second...

Pfam Domains

ANPaa 98–128UCSCAtrial natriuretic peptide

Gene Aliases

HGNC Name

natriuretic peptide B

HGNC Previous Name

natriuretic peptide precursor B

Papers
RefSeq ID
Protein change
DNA change
1–12 of 77 variants
9 papers
NM_002521.3
p.A20A
c.60T>A
5 papers
NM_002521.3
p.N48I
c.143A>T
4 papers
NM_002521.3
p.S103N
c.308G>A
3 papers
NM_002521.3
p.R25L
c.74G>T
3 papers
NM_002521.3
p.R47H
c.140G>A
3 papers
NM_002521.3
p.V76A
c.227T>C
3 papers
NM_002521.3
p.V94F
c.280G>T
2 papers
NM_002521.3
p.M1V
c.1A>G
2 papers
NM_002521.3
p.R72H
c.215G>A
2 papers
NM_002521.3
p.R80W
c.238C>T
1 paper
NM_002521.3
p.M1L
c.1A>T
1 paper
NM_002521.3
p.M1insFs
c.1dupA
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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."