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.L2184F

c.6552G>T

Surrounding Variants

1 paper

NM_024408.4

p.L2184F

c.6552G>C

1 paper

NM_024408.4

p.L2184M

c.6550T>A

1 paper

NM_024408.4

p.M2183V

c.6547A>G

1 paper

NM_024408.4

p.T2186fs

c.6556_6557fs

1 paper

NM_024408.4

p.A2188T

c.6562G>A

1 paper

NM_024408.4

p.P2189fs

c.6565_6566fs

1 paper

NM_024408.4

p.A2191T

c.6571G>A

1 paper

NM_024408.4

p.A2178S

c.6532G>T

1 paper

NM_024408.4

p.A2191V

c.6572C>T

1 paper

NM_024408.4

p.A2191D

c.6572C>A

1 paper

NM_024408.4

p.V2193I

c.6577G>A

1 paper

NM_024408.4

p.V2193fs

c.6577_6578fs