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.L2301insFs

c.6902_6903insG

Surrounding Variants

3 papers

NM_024408.4

p.L2301*

c.6902T>A

2 papers

NM_024408.4

p.P2302fs

c.6904_6905fs

1 paper

NM_024408.4

p.E2299delFs

c.6897delC

2 papers

NM_024408.4

p.E2299fs

c.6895_6896fs

1 paper

NM_024408.4

p.E2299delFs

c.6896delT

1 paper

NM_024408.4

p.P2303R

c.6908C>G

1 paper

NM_024408.4

p.E2299insFs

c.6895dupG

7 papers

NM_024408.4

p.E2299*

c.6895G>T

1 paper

NM_024408.4

p.E2299K

c.6895G>A

1 paper

NM_024408.4

p.E2299fs

c.6895_6896fs

1 paper

NM_024408.4

p.P2303_I2304insFs

c.6909_6910insG

3 papers

NM_024408.4

p.P2303fs

c.6907_6908fs