Varaico: Literature-Extracted Genetic Variants

Gene:NPPA

NPPA

272 papers

RefSeq Summary

The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein i...

Pfam Domains

ANPaa 116–146UCSCAtrial natriuretic peptide

Gene Aliases

HGNC Name

natriuretic peptide A

HGNC Previous Symbol

PND

Papers
RefSeq ID
Protein change
DNA change
1–12 of 137 variants
22 papers
NM_006172.4
p.V32M
c.94G>A
20 papers
NM_006172.4
p.S64R
c.190A>C
19 papers
NM_006172.4
p.S64R
c.192T>G
19 papers
NM_006172.4
p.S64R
c.192T>A
13 papers
NM_006172.4
p.R150Q
c.449G>A
9 papers
NM_006172.4
p.*152R
c.454T>C
6 papers
NM_006172.4
p.*152R
c.454T>A
5 papers
NM_006172.4
p.A117V
c.350C>T
4 papers
NM_006172.4
p.I138T
c.413T>C
3 papers
NM_006172.4
p.K41_N42Splc
c.123+16C>T
3 papers
NM_006172.4
p.S64N
c.191G>A
3 papers
NM_006172.4
p.E65K
c.193G>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."