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.R2400Q

c.7199G>A

Surrounding Variants

1 paper

NM_024408.4

p.R2400insFs

c.7199_7200insTG

1 paper

NM_024408.4

p.R2400delFs

c.7198delG

60 papers

NM_024408.4

p.R2400*

c.7198C>T

1 paper

NM_024408.4

p.R2400fs

c.7198_7199fs

1 paper

NM_024408.4

p.R2400fs

c.7198_7199fs

1 paper

NM_024408.4

p.T2401A

c.7201A>G

1 paper

NM_024408.4

p.T2401fs

c.7201_7202fs

2 papers

NM_024408.4

p.R2400delFs

c.7199_7200delTC

1 paper

NM_024408.4

p.S2403I

c.7208G>T

1 paper

NM_024408.4

p.S2405G

c.7213A>G

1 paper

NM_024408.4

p.S2405R

c.7213A>C

1 paper

NM_024408.4

p.H2404_S2405delFs

c.7212_7213delTG