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

3 papers

NM_024408.4

p.Q1656R

c.4967A>G

Surrounding Variants

1 paper

NM_024408.4

p.G1657G

c.4971G>T

1 paper

NM_024408.4

p.I1655V

c.4963A>G

1 paper

NM_024408.4

p.T1658I

c.4973C>T

1 paper

NM_024408.4

p.A1654T

c.4960G>A

1 paper

NM_024408.4

p.H1653R

c.4958A>G

1 paper

NM_024408.4

p.H1653Y

c.4957C>T

1 paper

NM_024408.4

p.V1664M

c.4990G>A

1 paper

NM_024408.4

p.S1665T

c.4993T>A

1 paper

NM_024408.4

p.H1653_V1664del12

c.4957_4991del36

1 paper

NM_024408.4

p.A1647P

c.4939G>C

4 papers

NM_024408.4

p.V1666F

c.4996G>T

1 paper

NM_024408.4

p.S1665insFs

c.4995dupT