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

35 papers

NM_024408.4

p.L2408H

c.7223T>A

Surrounding Variants

1 paper

NM_024408.4

p.L2408fs

c.7222_7223fs

12 papers

NM_024408.4

p.Q2409*

c.7225C>T

1 paper

NM_024408.4

p.S2405_H2407delFs

c.7214_7220del7

1 paper

NM_024408.4

p.Q2409L

c.7226A>T

2 papers

NM_024408.4

p.Q2409fs

c.7225_7226fs

1 paper

NM_024408.4

p.G2410R

c.7228G>C

1 paper

NM_024408.4

p.G2410D

c.7229G>A

1 paper

NM_024408.4

p.H2404_S2405del2

c.7210_7214del6

1 paper

NM_024408.4

p.S2405R

c.7215T>G

1 paper

NM_024408.4

p.S2405R

c.7215T>A

5 papers

NM_024408.4

p.E2411*

c.7231G>T

1 paper

NM_024408.4

p.E2411fs

c.7231_7232fs