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

8 papers

NM_024408.4

p.K2121N

c.6363G>T

Surrounding Variants

9 papers

NM_024408.4

p.K2121N

c.6363G>C

2 papers

NM_024408.4

p.E2122*

c.6364G>T

1 paper

NM_024408.4

p.A2120ins5

c.6358_6359ins15

1 paper

NM_024408.4

p.K2124delFs

c.6371delT

1 paper

NM_024408.4

p.D2125N

c.6373G>A

1 paper

NM_024408.4

p.N2118insFs

c.6352_6353insGT

3 papers

NM_024408.4

p.E2122_D2125del4

c.6364_6374del12

1 paper

NM_024408.4

p.L2116H

c.6347T>A

1 paper

NM_024408.4

p.K2127_G2128insC

c.6379_6383ins3

1 paper

NM_024408.4

p.K2127fs

c.6379_6380fs

1 paper

NM_024408.4

p.G2128V

c.6383G>T

1 paper

NM_024408.4

p.G2128A

c.6383G>C