Varaico: Literature-Extracted Genetic Variants

Gene:NPPB
Variant:p.H49R

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
Selected Variant
1 paper
NM_002521.3
p.H49R
c.146A>G
Surrounding Variants
5 papers
NM_002521.3
p.N48I
c.143A>T
3 papers
NM_002521.3
p.R47H
c.140G>A
1 paper
NM_002521.3
p.K53Q
c.157A>C
1 paper
NM_002521.3
p.Q44_E45Splc
c.133-1G>A
1 paper
NM_002521.3
p.Q44_E45Splc
c.133-3C>A
1 paper
NM_002521.3
p.Q58H
c.174G>C
1 paper
NM_002521.3
p.Q61*
c.181C>T
1 paper
NM_002521.3
p.T62I
c.185C>T
1 paper
NM_002521.3
p.L64P
c.191T>C
1 paper
NM_002521.3
p.E69*
c.205G>T
1 paper
NM_002521.3
p.S70I
c.209G>T
1 paper
NM_002521.3
p.S70R
c.210C>G
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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."