Varaico: Literature-Extracted Genetic Variants

Gene:NPPB
Variant:p.H27R

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.H27R
c.80A>G
Surrounding Variants
1 paper
NM_002521.3
p.S26F
c.77C>T
3 papers
NM_002521.3
p.R25L
c.74G>T
1 paper
NM_002521.3
p.R25C
c.73C>T
1 paper
NM_002521.3
p.G30S
c.88G>A
1 paper
NM_002521.3
p.G30D
c.89G>A
1 paper
NM_002521.3
p.P32S
c.94C>T
1 paper
NM_002521.3
p.P32insFs
c.94_95insA
1 paper
NM_002521.3
p.F21F
c.63C>T
9 papers
NM_002521.3
p.A20A
c.60T>A
1 paper
NM_002521.3
p.A20T
c.58G>A
1 paper
NM_002521.3
p.S34_A35insFs
c.102_103insA
1 paper
NM_002521.3
p.A35T
c.103G>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."