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

1–12 of 3104 variants

60 papers

NM_024408.4

p.R2400*

c.7198C>T

47 papers

NM_024408.4

p.C19W

c.57C>G

35 papers

NM_024408.4

p.L2408H

c.7223T>A

32 papers

NM_024408.4

p.P6fs

c.16_17fs

28 papers

NM_024408.4

p.A21T

c.61G>A

25 papers

NM_024408.4

p.P6delFs

c.17_18delGG

21 papers

NM_024408.4

p.N46S

c.137A>G

20 papers

NM_024408.4

p.E38K

c.112G>A

19 papers

NM_024408.4

p.V1667I

c.4999G>A

19 papers

NM_024408.4

p.Q2285*

c.6853C>T

19 papers

NM_024408.4

p.P2303insFs

c.6909dupC

19 papers

NM_024408.4

p.P2359A

c.7075C>G