Varaico: Literature-Extracted Genetic Variants

Gene:NPPB
Variant:p.E85K

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.E85K
c.253G>A
Surrounding Variants
1 paper
NM_002521.3
p.E85*
c.253G>T
1 paper
NM_002521.3
p.E81delFs
c.242delT
2 papers
NM_002521.3
p.R80W
c.238C>T
1 paper
NM_002521.3
p.H90H
c.270C>T
1 paper
NM_002521.3
p.R91L
c.272G>T
1 paper
NM_002521.3
p.W77C
c.231G>T
1 paper
NM_002521.3
p.W77C
c.231G>C
1 paper
NM_002521.3
p.M93L
c.277A>T
1 paper
NM_002521.3
p.M93L
c.277A>C
3 papers
NM_002521.3
p.V76A
c.227T>C
3 papers
NM_002521.3
p.V94F
c.280G>T
1 paper
NM_002521.3
p.L95insFs
c.283dupC
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