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

2 papers

NM_024408.4

p.M2459I

c.7377G>C

Surrounding Variants

2 papers

NM_024408.4

p.M2459I

c.7377G>T

2 papers

NM_024408.4

p.M2459I

c.7377G>A

1 paper

NM_024408.4

p.S2460C

c.7379C>G

1 paper

NM_024408.4

p.P2463T

c.7387C>A

1 paper

NM_024408.4

p.G2454*

c.7360G>T

4 papers

NM_024408.4

p.R2453Q

c.7358G>A

1 paper

NM_024408.4

p.N2466S

c.7397A>G

1 paper

NM_024408.4

p.M2467I

c.7401G>T

1 paper

NM_024408.4

p.M2467I

c.7401G>C

1 paper

NM_024408.4

p.M2467I

c.7401G>A

1 paper

NM_024408.4

p.G2451D

c.7352G>A

1 paper

NM_024408.4

p.G2449A

c.7346G>C