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

19 papers

NM_024408.4

p.Q2285*

c.6853C>T

Surrounding Variants

1 paper

NM_024408.4

p.Q2285fs

c.6853_6854fs

1 paper

NM_024408.4

p.Q2285R

c.6854A>G

2 papers

NM_024408.4

p.Q2285fs

c.6853_6854fs

3 papers

NM_024408.4

p.Q2285delFs

c.6854delT

2 papers

NM_024408.4

p.A2283_P2284delFs

c.6847_6850del4

1 paper

NM_024408.4

p.P2284S

c.6850C>T

1 paper

NM_024408.4

p.I2282_A2283insFs

c.6846_6849dup4

1 paper

NM_024408.4

p.I2282_A2283delFs

c.6846_6849del4

1 paper

NM_024408.4

p.S2286R

c.6856A>C

1 paper

NM_024408.4

p.Q2285delFs

c.6855delC

1 paper

NM_024408.4

p.S2286R

c.6858C>G

2 papers

NM_024408.4

p.S2286fs

c.6856_6857fs