Varaico: Literature-Extracted Genetic Variants

Gene:NRG1
Variant:p.M139I

NRG1

532 papers

RefSeq Summary

The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variet...

Pfam Domains

EGFaa 28–66UCSCEGF-like domain
I-setaa 36–129UCSCImmunoglobulin I-set domain
I-setaa 36–129UCSCImmunoglobulin I-set domain
Neuregulinaa 113–275UCSCNeuregulin intracellular region
EGFaa 182–220UCSCEGF-like domain

Gene Aliases

HGNC Name

neuregulin 1

HGNC Previous Symbols

HGL; NRG1-IT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_013964.5
p.M139I
c.417G>A
Surrounding Variants
3 papers
NM_013964.5
p.M139I
c.417G>C
3 papers
NM_013964.5
p.M139I
c.417G>T
1 paper
NM_013964.5
p.M139T
c.416T>C
1 paper
NM_013964.5
p.A141T
c.421G>A
1 paper
NM_013964.5
p.T137I
c.410C>T
1 paper
NM_013964.5
p.T143S
c.428C>G
1 paper
NM_013964.5
p.I135T
c.404T>C
1 paper
NM_013964.5
p.A146G
c.437C>G
1 paper
NM_013964.5
p.A146V
c.437C>T
1 paper
NM_013964.5
p.A146A
c.438A>G
1 paper
NM_013964.5
p.E151Splc
c.452-5T>C
1 paper
NM_013964.5
p.P153_I154insFs
c.459_460insG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."