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.T2441S

c.7322C>G

Surrounding Variants

1 paper

NM_024408.4

p.T2441I

c.7322C>T

1 paper

NM_024408.4

p.T2441S

c.7321A>T

1 paper

NM_024408.4

p.T2440N

c.7319C>A

1 paper

NM_024408.4

p.V2439G

c.7316T>G

1 paper

NM_024408.4

p.V2439delFs

c.7315delC

1 paper

NM_024408.4

p.T2444S

c.7330A>T

1 paper

NM_024408.4

p.T2444S

c.7331C>G

1 paper

NM_024408.4

p.D2438N

c.7312G>A

2 papers

NM_024408.4

p.S2437L

c.7310C>T

1 paper

NM_024408.4

p.G2446V

c.7337G>T

1 paper

NM_024408.4

p.G2446E

c.7337G>A

2 papers

NM_024408.4

p.D2435E

c.7305C>G