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

2 papers

NM_024408.4

p.P2297fs

c.6889_6890fs

Surrounding Variants

1 paper

NM_024408.4

p.T2296insFs

c.6887dupC

1 paper

NM_024408.4

p.P2297delFs

c.6890delG

1 paper

NM_024408.4

p.R2298fs

c.6892_6893fs

5 papers

NM_024408.4

p.R2298W

c.6892C>T

1 paper

NM_024408.4

p.P2297insFs

c.6891dupT

2 papers

NM_024408.4

p.P2297fs

c.6889_6890fs

2 papers

NM_024408.4

p.R2298Q

c.6893G>A

2 papers

NM_024408.4

p.P2297S

c.6889C>T

1 paper

NM_024408.4

p.T2296fs

c.6886_6887fs

1 paper

NM_024408.4

p.I2294_T2296delFs

c.6880_6887del8

7 papers

NM_024408.4

p.E2299*

c.6895G>T

1 paper

NM_024408.4

p.E2299K

c.6895G>A