Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2NLR
Variant:p.M40I

NOTCH2NLR

8 papers

Pfam Domains

EGFaa 68–100UCSCEGF-like domain
EGFaa 107–141UCSCEGF-like domain
hEGFaa 153–174UCSCHuman growth factor-like EGF
EGF_CAaa 182–221UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

notch 2 N-terminal like R

HGNC Previous Name

notch 2 N-terminal like R (pseudogene)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001396072.1
p.M40I
c.120G>C
Surrounding Variants
1 paper
NM_001396072.1
p.M40I
c.120G>A
1 paper
NM_001396072.1
p.M40I
c.120G>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."