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.R5_P6del2

c.13_17del6

Surrounding Variants

1 paper

NM_024408.4

p.A7insFs

c.19_20ins7

1 paper

NM_024408.4

p.A7insFs

c.19_20ins10

1 paper

NM_024408.4

p.A7T

c.19G>A

1 paper

NM_024408.4

p.P6delFs

c.18delG

25 papers

NM_024408.4

p.P6delFs

c.17_18delGG

5 papers

NM_024408.4

p.P6del1

c.16_17delGGG

1 paper

NM_024408.4

p.P6P

c.18C>G

32 papers

NM_024408.4

p.P6fs

c.16_17fs

3 papers

NM_024408.4

p.A7ins3

c.20_21ins9

1 paper

NM_024408.4

p.A7ins4

c.20_21ins12

1 paper

NM_024408.4

p.A7ins5

c.20_21ins15

3 papers

NM_024408.4

p.A7ins3

c.20_21ins9