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.S2426*

c.7277C>A

Surrounding Variants

1 paper

NM_024408.4

p.S2426*

c.7277C>G

1 paper

NM_024408.4

p.S2427R

c.7279A>C

1 paper

NM_024408.4

p.S2427R

c.7281T>G

1 paper

NM_024408.4

p.S2427R

c.7281T>A

1 paper

NM_024408.4

p.P2430S

c.7288C>T

1 paper

NM_024408.4

p.H2431fs

c.7291_7292fs

2 papers

NM_024408.4

p.S2421F

c.7262C>T

1 paper

NM_024408.4

p.H2431delFs

c.7291delG

2 papers

NM_024408.4

p.E2420delFs

c.7259_7260delCT

3 papers

NM_024408.4

p.E2420fs

c.7258_7259fs

3 papers

NM_024408.4

p.E2420*

c.7258G>T

1 paper

NM_024408.4

p.P2419delFs

c.7256_7257delTG