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.S2200C

c.6599C>G

Surrounding Variants

1 paper

NM_024408.4

p.A2198T

c.6592G>A

1 paper

NM_024408.4

p.H2197Q

c.6591T>G

1 paper

NM_024408.4

p.H2197Q

c.6591T>A

1 paper

NM_024408.4

p.N2203Y

c.6607A>T

2 papers

NM_024408.4

p.Q2196*

c.6586C>T

1 paper

NM_024408.4

p.Q2196K

c.6586C>A

1 paper

NM_024408.4

p.H2205fs

c.6613_6614fs

1 paper

NM_024408.4

p.H2205P

c.6614A>C

1 paper

NM_024408.4

p.H2205insFs

c.6614dupA

2 papers

NM_024408.4

p.A2195T

c.6583G>A

1 paper

NM_024408.4

p.E2206K

c.6616G>A

1 paper

NM_024408.4

p.V2193_H2205delFs

c.6578_6615del38