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.H2158N

c.6472C>A

Surrounding Variants

1 paper

NM_024408.4

p.P2157fs

c.6469_6470fs

1 paper

NM_024408.4

p.H2158Q

c.6474C>G

1 paper

NM_024408.4

p.H2158Q

c.6474C>A

1 paper

NM_024408.4

p.P2157H

c.6470C>A

2 papers

NM_024408.4

p.P2157T

c.6469C>A

1 paper

NM_024408.4

p.T2159M

c.6476C>T

1 paper

NM_024408.4

p.S2156C

c.6467C>G

1 paper

NM_024408.4

p.E2155delFs

c.6464delT

3 papers

NM_024408.4

p.E2155fs

c.6463_6464fs

1 paper

NM_024408.4

p.E2155G

c.6464A>G

2 papers

NM_024408.4

p.E2155delFs

c.6463delC

1 paper

NM_024408.4

p.S2149_E2155del0

c.6446_6463del18