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

3 papers

NM_024408.4

p.A2316V

c.6947C>T

Surrounding Variants

1 paper

NM_024408.4

p.I2315I

c.6945T>C

18 papers

NM_024408.4

p.Q2317*

c.6949C>T

1 paper

NM_024408.4

p.I2315N

c.6944T>A

1 paper

NM_024408.4

p.I2315V

c.6943A>G

2 papers

NM_024408.4

p.G2313D

c.6938G>A

3 papers

NM_024408.4

p.A2319V

c.6956C>T

2 papers

NM_024408.4

p.G2313S

c.6937G>A

1 paper

NM_024408.4

p.K2312*

c.6934A>T

2 papers

NM_024408.4

p.P2311delFs

c.6933delA

2 papers

NM_024408.4

p.P2311insFs

c.6932_6933insC

2 papers

NM_024408.4

p.P2311fs

c.6931_6932fs

1 paper

NM_024408.4

p.A2321fs

c.6961_6962fs