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.A2079fs

c.6235_6236fs

Surrounding Variants

1 paper

NM_024408.4

p.L2080F

c.6238C>T

1 paper

NM_024408.4

p.S2078_A2079del2

c.6232_6236del6

1 paper

NM_024408.4

p.A2079insFs

c.6235_6236insT

1 paper

NM_024408.4

p.S2081T

c.6241T>A

2 papers

NM_024408.4

p.S2078F

c.6233C>T

1 paper

NM_024408.4

p.S2078C

c.6233C>G

1 paper

NM_024408.4

p.S2081insFs

c.6243dupA

1 paper

NM_024408.4

p.P2082fs

c.6244_6245fs

1 paper

NM_024408.4

p.L2076fs

c.6226_6227fs

1 paper

NM_024408.4

p.I2084F

c.6250A>T

1 paper

NM_024408.4

p.I2084N

c.6251T>A

1 paper

NM_024408.4

p.V2075L

c.6223G>T