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.P2303_I2304insFs

c.6909_6910insG

Surrounding Variants

3 papers

NM_024408.4

p.P2303fs

c.6907_6908fs

14 papers

NM_024408.4

p.I2304fs

c.6910_6911fs

1 paper

NM_024408.4

p.P2303R

c.6908C>G

1 paper

NM_024408.4

p.I2304L

c.6910A>C

1 paper

NM_024408.4

p.I2304Fs

c.6910delinsCCCFs

19 papers

NM_024408.4

p.P2303insFs

c.6909dupC

12 papers

NM_024408.4

p.P2303delFs

c.6909delG

1 paper

NM_024408.4

p.I2304Fs

c.6911delinsCCCFs

1 paper

NM_024408.4

p.I2304delFs

c.6910delT

17 papers

NM_024408.4

p.I2304fs

c.6910_6911fs

2 papers

NM_024408.4

p.P2302fs

c.6904_6905fs

1 paper

NM_024408.4

p.I2304delFs

c.6911delA