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.P22H

c.65C>A

Surrounding Variants

2 papers

NM_024408.4

p.P22L

c.65C>T

1 paper

NM_024408.4

p.P22P

c.66C>A

1 paper

NM_024408.4

p.P22insFs

c.66dupC

4 papers

NM_024408.4

p.A23fs

c.67_68fs

1 paper

NM_024408.4

p.A20_A21delins

c.60_62delinsTTT

1 paper

NM_024408.4

p.A23A

c.69G>C

28 papers

NM_024408.4

p.A21T

c.61G>A

1 paper

NM_024408.4

p.A23A

c.69G>A

1 paper

NM_024408.4

p.H24Y

c.70C>T

1 paper

NM_024408.4

p.A23del1

c.67_68delCGC

1 paper

NM_024408.4

p.A20insFs

c.58_59ins7

1 paper

NM_024408.4

p.H24L

c.71A>T