Varaico: Literature-Extracted Genetic Variants

Gene:NMBR
Variant:p.L218V

NMBR

78 papers

RefSeq Summary

This gene encodes a 7-transmembrane G protein-coupled receptor that binds neuromedin B, which is a growth factor and mitogen for gastrointestinal epithelial tissue and for normal and neoplastic lung. ...

Pfam Domains

7tm_1aa 60–325UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

neuromedin B receptor

HGNC Alias Symbols

BB1; BB1R; BRS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002511.4
p.L218V
c.652T>G
Surrounding Variants
1 paper
NM_002511.4
p.I216S
c.647T>G
1 paper
NM_002511.4
p.S213S
c.639A>G
1 paper
NM_002511.4
p.Q203H
c.609A>T
1 paper
NM_002511.4
p.Q203H
c.609A>C
1 paper
NM_002511.4
p.P202L
c.605C>T
1 paper
NM_002511.4
p.I199M
c.597C>G
1 paper
NM_002511.4
p.I199V
c.595A>G
1 paper
NM_002511.4
p.I199L
c.595A>C
1 paper
NM_002511.4
p.A197V
c.590C>T
1 paper
NM_002511.4
p.A197E
c.590C>A
1 paper
NM_002511.4
p.A243T
c.727G>A
1 paper
NM_002511.4
p.P247S
c.739C>T
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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."