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.T2295insFs

c.6883_6884insA

Surrounding Variants

1 paper

NM_024408.4

p.G2291_T2295delFs

c.6872_6884del13

1 paper

NM_024408.4

p.T2296P

c.6886A>C

2 papers

NM_024408.4

p.I2294fs

c.6880_6881fs

1 paper

NM_024408.4

p.T2296fs

c.6886_6887fs

1 paper

NM_024408.4

p.I2294_T2296delFs

c.6880_6887del8

1 paper

NM_024408.4

p.H2293insFs

c.6879dupC

2 papers

NM_024408.4

p.P2297fs

c.6889_6890fs

2 papers

NM_024408.4

p.P2297S

c.6889C>T

2 papers

NM_024408.4

p.H2293fs

c.6877_6878fs

1 paper

NM_024408.4

p.H2293delFs

c.6877delG

1 paper

NM_024408.4

p.T2296insFs

c.6887dupC

2 papers

NM_024408.4

p.P2297fs

c.6889_6890fs