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.P22_A23delFs

c.66_67delCG

Surrounding Variants

1 paper

NM_024408.4

p.H24L

c.71A>T

1 paper

NM_024408.4

p.H24delFs

c.70delG

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.A25S

c.73G>T

1 paper

NM_024408.4

p.A23A

c.69G>C

1 paper

NM_024408.4

p.A23A

c.69G>A

1 paper

NM_024408.4

p.A21_A25del0

c.62_73del12

1 paper

NM_024408.4

p.A25Splc

c.73+2T>G

1 paper

NM_024408.4

p.C18_A25del0

c.53_73del21

1 paper

NM_024408.4

p.P22insFs

c.66dupC

4 papers

NM_024408.4

p.A23fs

c.67_68fs