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.Y2414insFs

c.7240dupT

Surrounding Variants

1 paper

NM_024408.4

p.Y2414delFs

c.7240delA

1 paper

NM_024408.4

p.P2413insFs

c.7239dupC

1 paper

NM_024408.4

p.Q2409_P2413delFs

c.7227_7239del13

3 papers

NM_024408.4

p.Y2414*

c.7242C>G

3 papers

NM_024408.4

p.Y2414*

c.7242C>A

2 papers

NM_024408.4

p.Y2414fs

c.7240_7241fs

2 papers

NM_024408.4

p.P2413L

c.7238C>T

1 paper

NM_024408.4

p.P2413H

c.7238C>A

1 paper

NM_024408.4

p.H2412delFs

c.7236delA

2 papers

NM_024408.4

p.H2412fs

c.7234_7235fs

1 paper

NM_024408.4

p.H2412delFs

c.7235delT

1 paper

NM_024408.4

p.T2416A

c.7246A>G