Varaico: Literature-Extracted Genetic Variants

Gene:NPPB
Variant:p.Q4delins

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.Q4delins
c.11delinsA
Surrounding Variants
1 paper
NM_002521.3
p.D2Y
c.4G>T
1 paper
NM_002521.3
p.M1I
c.3G>T
1 paper
NM_002521.3
p.M1insFs
c.1dupA
1 paper
NM_002521.3
p.M1R
c.2T>G
1 paper
NM_002521.3
p.M1L
c.1A>T
2 papers
NM_002521.3
p.M1V
c.1A>G
1 paper
NM_002521.3
p.A10V
c.29C>T
1 paper
NM_002521.3
p.L13L
c.39C>G
1 paper
NM_002521.3
p.L15V
c.43C>G
1 paper
NM_002521.3
p.L17M
c.49T>A
1 paper
NM_002521.3
p.L17F
c.51G>T
1 paper
NM_002521.3
p.A20T
c.58G>A
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