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

13 papers

NM_024408.4

p.A3S

c.7G>T

Surrounding Variants

1 paper

NM_024408.4

p.P2insFs

c.4dupC

7 papers

NM_024408.4

p.P2delFs

c.6delG

1 paper

NM_024408.4

p.P2delFs

c.5_6delGG

8 papers

NM_024408.4

p.A3V

c.8C>T

10 papers

NM_024408.4

p.A3delins

c.7_8delinsTT

1 paper

NM_024408.4

p.A3_L4insFs

c.9_10insA

1 paper

NM_024408.4

p.P2S

c.4C>T

1 paper

NM_024408.4

p.M1insFs

c.3dupG

1 paper

NM_024408.4

p.M1_P2delins

c.3_4delinsTT

1 paper

NM_024408.4

p.L4P

c.11T>C

4 papers

NM_024408.4

p.M1I

c.3G>T

3 papers

NM_024408.4

p.M1insFs

c.2dupT