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

4 papers

NM_024408.4

p.E2137*

c.6409G>T

Surrounding Variants

2 papers

NM_024408.4

p.S2136fs

c.6406_6407fs

1 paper

NM_024408.4

p.L2135_E2137delFs

c.6405_6409del5

1 paper

NM_024408.4

p.S2136_E2137delFs

c.6408_6411del4

1 paper

NM_024408.4

p.L2135insFs

c.6404_6405insT

1 paper

NM_024408.4

p.L2135insFs

c.6404_6405insTT

7 papers

NM_024408.4

p.L2135fs

c.6403_6404fs

6 papers

NM_024408.4

p.L2135delFs

c.6403_6404delAG

3 papers

NM_024408.4

p.L2135fs

c.6403_6404fs

1 paper

NM_024408.4

p.L2135insFs

c.6403_6404insT

1 paper

NM_024408.4

p.V2139A

c.6416T>C

2 papers

NM_024408.4

p.S2134Y

c.6401C>A

10 papers

NM_024408.4

p.Q2140*

c.6418C>T