Varaico: Literature-Extracted Genetic Variants

Gene:NRG1
Variant:p.P33T

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
2 papers
NM_013964.5
p.P33T
c.97C>A
Surrounding Variants
1 paper
NM_013964.5
p.P33L
c.98C>T
1 paper
NM_013964.5
p.Q31L
c.92A>T
1 paper
NM_013964.5
p.Q31ins1
c.92_93insATA
1 paper
NM_013964.5
p.S30C
c.88A>T
2 papers
NM_013964.5
p.A28G
c.83C>G
1 paper
NM_013964.5
p.A28V
c.83C>T
1 paper
NM_013964.5
p.A27G
c.80C>G
1 paper
NM_013964.5
p.A27V
c.80C>T
1 paper
NM_013964.5
p.A27T
c.79G>A
1 paper
NM_013964.5
p.E25A
c.74A>C
1 paper
NM_013964.5
p.P24P
c.72G>A
1 paper
NM_013964.5
p.A34Splc
c.100+23G>C
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