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.F2015fs

c.6043_6044fs

Surrounding Variants

1 paper

NM_024408.4

p.L2014_F2015delFs

c.6042_6043delAC

1 paper

NM_024408.4

p.L2014delFs

c.6040_6041delAG

1 paper

NM_024408.4

p.L2014fs

c.6040_6041fs

2 papers

NM_024408.4

p.L2014V

c.6040C>G

1 paper

NM_024408.4

p.A2018G

c.6053C>G

2 papers

NM_024408.4

p.R2019W

c.6055C>T

2 papers

NM_024408.4

p.R2019L

c.6056G>T

1 paper

NM_024408.4

p.R2019P

c.6056G>C

1 paper

NM_024408.4

p.R2019Q

c.6056G>A

1 paper

NM_024408.4

p.E2010K

c.6028G>A

1 paper

NM_024408.4

p.K2009_E2010Splc

c.6028-1G>T

1 paper

NM_024408.4

p.G2021W

c.6061G>T