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.S2153T

c.6457T>A

Surrounding Variants

1 paper

NM_024408.4

p.S2153fs

c.6457_6458fs

1 paper

NM_024408.4

p.S2153F

c.6458C>T

3 papers

NM_024408.4

p.S2153delFs

c.6457delA

1 paper

NM_024408.4

p.L2154P

c.6461T>C

1 paper

NM_024408.4

p.P2150_V2151delFs

c.6450_6451delCA

1 paper

NM_024408.4

p.L2154fs

c.6460_6461fs

2 papers

NM_024408.4

p.E2155*

c.6463G>T

4 papers

NM_024408.4

p.V2151L

c.6451G>C

1 paper

NM_024408.4

p.V2151I

c.6451G>A

6 papers

NM_024408.4

p.P2150delFs

c.6450delA

5 papers

NM_024408.4

p.P2150delFs

c.6449_6450delAG

3 papers

NM_024408.4

p.P2150fs

c.6448_6449fs