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.P2330S

c.6988C>T

Surrounding Variants

1 paper

NM_024408.4

p.P2329insFs

c.6986_6987insG

3 papers

NM_024408.4

p.A2331S

c.6991G>T

1 paper

NM_024408.4

p.A2331T

c.6991G>A

2 papers

NM_024408.4

p.P2329S

c.6985C>T

2 papers

NM_024408.4

p.C2328R

c.6982T>C

1 paper

NM_024408.4

p.T2327I

c.6980C>T

2 papers

NM_024408.4

p.T2327A

c.6979A>G

11 papers

NM_024408.4

p.Q2325*

c.6973C>T

1 paper

NM_024408.4

p.P2335S

c.7003C>T

1 paper

NM_024408.4

p.P2324P

c.6972T>A

1 paper

NM_024408.4

p.P2335H

c.7004C>A

1 paper

NM_024408.4

p.P2324_Q2325ins8

c.6970_6974ins24