Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.S2142_E2143delFs

NOTCH2

1,480 papers

RefSeq Summary

This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal ...

Pfam Domains

EGFaa 68–100UCSCEGF-like domain
EGFaa 109–141UCSCEGF-like domain
EGFaa 148–178UCSCEGF-like domain
EGF_CAaa 182–221UCSCCalcium-binding EGF domain
hEGFaa 269–290UCSCHuman growth factor-like EGF
EGF_CAaa 298–338UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

notch receptor 2

HGNC Previous Names

Notch (Drosophila) homolog 2; Notch homolog 2 (Drosophila); notch 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_024408.4
p.S2142_E2143delFs
c.6424_6427del4
Surrounding Variants
2 papers
NM_024408.4
p.E2143insFs
c.6428_6429insT
1 paper
NM_024408.4
p.E2143delFs
c.6427delC
6 papers
NM_024408.4
p.E2143*
c.6427G>T
8 papers
NM_024408.4
p.S2142insFs
c.6426dupT
3 papers
NM_024408.4
p.S2142_E2143insFs
c.6426_6427insTT
5 papers
NM_024408.4
p.E2143fs
c.6427_6428fs
2 papers
NM_024408.4
p.E2143fs
c.6427_6428fs
2 papers
NM_024408.4
p.S2142fs
c.6424_6425fs
2 papers
NM_024408.4
p.S2142P
c.6424T>C
2 papers
NM_024408.4
p.S2145*
c.6434C>G
2 papers
NM_024408.4
p.S2145*
c.6434C>A
6 papers
NM_024408.4
p.L2141L
c.6421C>T
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