Varaico: Literature-Extracted Genetic Variants

Gene:NPPB
Variant:p.S41C

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.S41C
c.122C>G
Surrounding Variants
1 paper
NM_002521.3
p.E39K
c.115G>A
1 paper
NM_002521.3
p.S36_L43insFs
c.107_128dup22
1 paper
NM_002521.3
p.L38F
c.114G>T
1 paper
NM_002521.3
p.L38F
c.114G>C
1 paper
NM_002521.3
p.Q44R
c.131A>G
1 paper
NM_002521.3
p.D37N
c.109G>A
1 paper
NM_002521.3
p.S34_A35insFs
c.102_103insA
1 paper
NM_002521.3
p.A35T
c.103G>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.G30D
c.89G>A
1 paper
NM_002521.3
p.G30S
c.88G>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."