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.P2377L

c.7130C>T

Surrounding Variants

1 paper

NM_024408.4

p.P2377S

c.7129C>T

1 paper

NM_024408.4

p.P2377A

c.7129C>G

1 paper

NM_024408.4

p.F2376S

c.7127T>C

1 paper

NM_024408.4

p.S2379F

c.7136C>T

1 paper

NM_024408.4

p.Y2373_S2379del0

c.7118_7135del18

1 paper

NM_024408.4

p.Y2373_S2379del7

c.7117_7136del21

8 papers

NM_024408.4

p.Y2373*

c.7119T>G

7 papers

NM_024408.4

p.Y2373*

c.7119T>A

1 paper

NM_024408.4

p.G2381D

c.7142G>A

1 paper

NM_024408.4

p.K2382*

c.7144A>T

1 paper

NM_024408.4

p.P2371L

c.7112C>T

2 papers

NM_024408.4

p.Y2383*

c.7149C>G