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.R1630H

c.4889G>A

Surrounding Variants

5 papers

NM_024408.4

p.R1630C

c.4888C>T

1 paper

NM_024408.4

p.R1630G

c.4888C>G

1 paper

NM_024408.4

p.N1629S

c.4886A>G

1 paper

NM_024408.4

p.C1632Y

c.4895G>A

5 papers

NM_024408.4

p.V1633I

c.4897G>A

2 papers

NM_024408.4

p.I1627N

c.4880T>A

2 papers

NM_024408.4

p.Q1634*

c.4900C>T

1 paper

NM_024408.4

p.Q1634E

c.4900C>G

1 paper

NM_024408.4

p.E1626*

c.4876G>T

1 paper

NM_024408.4

p.E1626K

c.4876G>A

1 paper

NM_024408.4

p.D1635N

c.4903G>A

1 paper

NM_024408.4

p.D1635G

c.4904A>G