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.P2386T

c.7156C>A

Surrounding Variants

1 paper

NM_024408.4

p.P2387A

c.7159C>G

1 paper

NM_024408.4

p.P2387H

c.7160C>A

1 paper

NM_024408.4

p.P2384H

c.7151C>A

1 paper

NM_024408.4

p.P2384T

c.7150C>A

2 papers

NM_024408.4

p.S2388L

c.7163C>T

2 papers

NM_024408.4

p.S2388*

c.7163C>G

2 papers

NM_024408.4

p.Y2383*

c.7149C>G

2 papers

NM_024408.4

p.S2388*

c.7163C>A

2 papers

NM_024408.4

p.Y2383*

c.7149C>A

10 papers

NM_024408.4

p.Q2389*

c.7165C>T

1 paper

NM_024408.4

p.Q2389E

c.7165C>G

1 paper

NM_024408.4

p.K2382*

c.7144A>T