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

3 papers

NM_024408.4

p.E2064_P2071insFs

c.6190_6212dup23

Surrounding Variants

1 paper

NM_024408.4

p.P2072S

c.6214C>T

1 paper

NM_024408.4

p.P2072fs

c.6214_6215fs

2 papers

NM_024408.4

p.P2071T

c.6211C>A

1 paper

NM_024408.4

p.P2072delFs

c.6215delG

1 paper

NM_024408.4

p.P2069_G2073delFs

c.6207_6217del11

1 paper

NM_024408.4

p.P2069fs

c.6205_6206fs

2 papers

NM_024408.4

p.P2069delFs

c.6206delG

2 papers

NM_024408.4

p.P2069fs

c.6205_6206fs

1 paper

NM_024408.4

p.V2075L

c.6223G>T

1 paper

NM_024408.4

p.V2075L

c.6223G>C

17 papers

NM_024408.4

p.V2075M

c.6223G>A

1 paper

NM_024408.4

p.V2067E

c.6200T>A