Varaico: Literature-Extracted Genetic Variants

Gene:NMBR
Variant:p.G112R

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.G112R
c.334G>C
Surrounding Variants
1 paper
NM_002511.4
p.G112V
c.335G>T
1 paper
NM_002511.4
p.G112A
c.335G>C
1 paper
NM_002511.4
p.K113fs
c.337_338fs
1 paper
NM_002511.4
p.M110L
c.328A>T
1 paper
NM_002511.4
p.D107D
c.321C>T
1 paper
NM_002511.4
p.D107G
c.320A>G
1 paper
NM_002511.4
p.K117*
c.349A>T
1 paper
NM_002511.4
p.R103H
c.308G>A
1 paper
NM_002511.4
p.S102L
c.305C>T
1 paper
NM_002511.4
p.P98S
c.292C>T
1 paper
NM_002511.4
p.V97I
c.289G>A
1 paper
NM_002511.4
p.S130S
c.390C>G
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