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.A2321fs

c.6961_6962fs

Surrounding Variants

2 papers

NM_024408.4

p.A2321insFs

c.6961dupG

1 paper

NM_024408.4

p.P2322L

c.6965C>T

3 papers

NM_024408.4

p.A2319V

c.6956C>T

4 papers

NM_024408.4

p.Q2323*

c.6967C>T

1 paper

NM_024408.4

p.P2324_Q2325ins8

c.6970_6974ins24

1 paper

NM_024408.4

p.P2324P

c.6972T>A

18 papers

NM_024408.4

p.Q2317*

c.6949C>T

11 papers

NM_024408.4

p.Q2325*

c.6973C>T

3 papers

NM_024408.4

p.A2316V

c.6947C>T

1 paper

NM_024408.4

p.I2315I

c.6945T>C

1 paper

NM_024408.4

p.I2315N

c.6944T>A

2 papers

NM_024408.4

p.T2327A

c.6979A>G