Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_024408.4

p.P2288R

c.6863C>G

Surrounding Variants

1 paper

NM_024408.4

p.Q2285_S2286delFs

c.6853_6857del5

1 paper

NM_024408.4

p.P2289S

c.6865C>T

1 paper

NM_024408.4

p.P2289insFs

c.6866dupC

1 paper

NM_024408.4

p.P2289fs

c.6865_6866fs

1 paper

NM_024408.4

p.R2287G

c.6859A>G

4 papers

NM_024408.4

p.E2290*

c.6868G>T

1 paper

NM_024408.4

p.E2290_G2291ins11

c.6868_6872ins33

3 papers

NM_024408.4

p.E2290K

c.6868G>A

1 paper

NM_024408.4

p.S2286R

c.6858C>G

2 papers

NM_024408.4

p.S2286fs

c.6856_6857fs

1 paper

NM_024408.4

p.S2286R

c.6858C>A

1 paper

NM_024408.4

p.E2290fs

c.6868_6869fs