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.G2269V

c.6806G>T

Surrounding Variants

1 paper

NM_024408.4

p.F2268L

c.6804T>G

1 paper

NM_024408.4

p.F2268L

c.6804T>A

1 paper

NM_024408.4

p.M2267_G2269delFs

c.6801_6805del5

1 paper

NM_024408.4

p.V2259_M2267delFs

c.6775_6800del26

1 paper

NM_024408.4

p.F2268L

c.6802T>C

1 paper

NM_024408.4

p.M2267fs

c.6799_6800fs

1 paper

NM_024408.4

p.G2269_M2270del2

c.6805_6809del6

1 paper

NM_024408.4

p.E2266*

c.6796G>T

1 paper

NM_024408.4

p.E2266K

c.6796G>A

6 papers

NM_024408.4

p.N2265K

c.6795T>G

5 papers

NM_024408.4

p.N2265K

c.6795T>A

1 paper

NM_024408.4

p.Y2264*

c.6792C>G