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.P2280delins

c.6840delinsG

Surrounding Variants

1 paper

NM_024408.4

p.H2279_P2280del2

c.6835_6839del6

1 paper

NM_024408.4

p.G2281D

c.6842G>A

2 papers

NM_024408.4

p.P2280S

c.6838C>T

2 papers

NM_024408.4

p.H2279fs

c.6835_6836fs

2 papers

NM_024408.4

p.H2279delFs

c.6836delT

1 paper

NM_024408.4

p.G2281fs

c.6841_6842fs

1 paper

NM_024408.4

p.G2281delFs

c.6842_6843delGC

1 paper

NM_024408.4

p.I2282R

c.6845T>G

1 paper

NM_024408.4

p.H2279Y

c.6835C>T

1 paper

NM_024408.4

p.H2279Fs

c.6835delinsGCACGFs

1 paper

NM_024408.4

p.T2278Fs

c.6834delinsGCACGFs

1 paper

NM_024408.4

p.T2278fs

c.6832_6833fs