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

4 papers

NM_024408.4

p.R2453Q

c.7358G>A

Surrounding Variants

1 paper

NM_024408.4

p.G2454*

c.7360G>T

1 paper

NM_024408.4

p.G2451D

c.7352G>A

1 paper

NM_024408.4

p.G2449A

c.7346G>C

1 paper

NM_024408.4

p.A2448S

c.7342G>T

1 paper

NM_024408.4

p.A2448T

c.7342G>A

4 papers

NM_024408.4

p.G2447G

c.7341T>A

2 papers

NM_024408.4

p.G2447D

c.7340G>A

2 papers

NM_024408.4

p.M2459I

c.7377G>T

2 papers

NM_024408.4

p.M2459I

c.7377G>C

2 papers

NM_024408.4

p.M2459I

c.7377G>A

1 paper

NM_024408.4

p.G2446V

c.7337G>T

1 paper

NM_024408.4

p.G2446E

c.7337G>A