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

12 papers

NM_024408.4

p.Q2360*

c.7078C>T

Surrounding Variants

1 paper

NM_024408.4

p.Q2360K

c.7078C>A

8 papers

NM_024408.4

p.Q2361*

c.7081C>T

19 papers

NM_024408.4

p.P2359A

c.7075C>G

3 papers

NM_024408.4

p.M2358V

c.7072A>G

2 papers

NM_024408.4

p.G2363R

c.7087G>C

2 papers

NM_024408.4

p.G2363R

c.7087G>A

2 papers

NM_024408.4

p.A2356V

c.7067C>T

2 papers

NM_024408.4

p.A2356T

c.7066G>A

1 paper

NM_024408.4

p.Q2364fs

c.7090_7091fs

4 papers

NM_024408.4

p.Q2364*

c.7090C>T

1 paper

NM_024408.4

p.T2355fs

c.7063_7064fs

2 papers

NM_024408.4

p.Q2364delFs

c.7090delG