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.F2307insFs

c.6920dupT

Surrounding Variants

1 paper

NM_024408.4

p.F2307fs

c.6919_6920fs

1 paper

NM_024408.4

p.Q2308R

c.6923A>G

1 paper

NM_024408.4

p.Q2308fs

c.6922_6923fs

1 paper

NM_024408.4

p.T2306insFs

c.6916dupA

1 paper

NM_024408.4

p.T2306fs

c.6916_6917fs

3 papers

NM_024408.4

p.V2305delFs

c.6914_6915delCA

1 paper

NM_024408.4

p.V2305V

c.6915G>A

1 paper

NM_024408.4

p.I2310L

c.6928A>C

1 paper

NM_024408.4

p.I2310_P2311insGGT

c.6928_6932ins9

1 paper

NM_024408.4

p.I2304delFs

c.6911delA

1 paper

NM_024408.4

p.V2305fs

c.6913_6914fs

17 papers

NM_024408.4

p.I2304fs

c.6910_6911fs