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

4 papers

NM_024408.4

p.Y2392*

c.7176T>G

Surrounding Variants

1 paper

NM_024408.4

p.Y2392fs

c.7174_7175fs

2 papers

NM_024408.4

p.Y2392insFs

c.7175_7176insA

4 papers

NM_024408.4

p.Y2392*

c.7176T>A

1 paper

NM_024408.4

p.A2393P

c.7177G>C

1 paper

NM_024408.4

p.S2391fs

c.7171_7172fs

1 paper

NM_024408.4

p.S2394F

c.7181C>T

1 paper

NM_024408.4

p.S2391G

c.7171A>G

1 paper

NM_024408.4

p.H2390fs

c.7168_7169fs

1 paper

NM_024408.4

p.S2395L

c.7184C>T

2 papers

NM_024408.4

p.S2395*

c.7184C>G

2 papers

NM_024408.4

p.S2395*

c.7184C>A

10 papers

NM_024408.4

p.Q2389*

c.7165C>T