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.K52T

c.155A>C

Surrounding Variants

1 paper

NM_024408.4

p.G47_C51delFs

c.139_152del14

1 paper

NM_024408.4

p.C51F

c.152G>T

2 papers

NM_024408.4

p.Y50Y

c.150C>T

1 paper

NM_024408.4

p.Y50H

c.148T>C

1 paper

NM_024408.4

p.T48_G49delFs

c.144_147del4

1 paper

NM_024408.4

p.G49A

c.146G>C

2 papers

NM_024408.4

p.G49E

c.146G>A

1 paper

NM_024408.4

p.G49R

c.145G>A

1 paper

NM_024408.4

p.G47_T48delFs

c.141_142delTG

2 papers

NM_024408.4

p.T48I

c.143C>T

1 paper

NM_024408.4

p.T48K

c.143C>A

1 paper

NM_024408.4

p.H45_G47del3

c.133_140del9