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.L17P

c.50T>C

Surrounding Variants

1 paper

NM_024408.4

p.L15_W16del2

c.43_47del6

1 paper

NM_024408.4

p.L17L

c.49C>T

1 paper

NM_024408.4

p.C18G

c.52T>G

1 paper

NM_024408.4

p.W16C

c.48G>T

1 paper

NM_024408.4

p.W16C

c.48G>C

1 paper

NM_024408.4

p.W16*

c.48G>A

1 paper

NM_024408.4

p.W16*

c.47G>A

1 paper

NM_024408.4

p.W16_L17del2

c.46_50del6

11 papers

NM_024408.4

p.L17_C18del2

c.49_53del6

1 paper

NM_024408.4

p.C19Y

c.56G>A

2 papers

NM_024408.4

p.L15F

c.43C>T

47 papers

NM_024408.4

p.C19W

c.57C>G