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.N2260K

c.6780T>G

Surrounding Variants

1 paper

NM_024408.4

p.N2260K

c.6780T>A

2 papers

NM_024408.4

p.E2261K

c.6781G>A

1 paper

NM_024408.4

p.E2261D

c.6783G>T

1 paper

NM_024408.4

p.V2259fs

c.6775_6776fs

1 paper

NM_024408.4

p.E2261D

c.6783G>C

1 paper

NM_024408.4

p.E2261E

c.6783G>A

1 paper

NM_024408.4

p.T2262N

c.6785C>A

1 paper

NM_024408.4

p.E2258fs

c.6772_6773fs

6 papers

NM_024408.4

p.Q2263*

c.6787C>T

1 paper

NM_024408.4

p.Q2263K

c.6787C>A

1 paper

NM_024408.4

p.Q2263R

c.6788A>G

2 papers

NM_024408.4

p.M2257I

c.6771G>T