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.D1644A

c.4931A>C

Surrounding Variants

2 papers

NM_024408.4

p.T1643M

c.4928C>T

1 paper

NM_024408.4

p.A1645V

c.4934C>T

2 papers

NM_024408.4

p.T1643R

c.4928C>G

1 paper

NM_024408.4

p.A1646T

c.4936G>A

1 paper

NM_024408.4

p.A1646G

c.4937C>G

1 paper

NM_024408.4

p.A1647P

c.4939G>C

1 paper

NM_024408.4

p.K1641T

c.4922A>C

1 paper

NM_024408.4

p.K1641E

c.4921A>G

1 paper

NM_024408.4

p.H1638Q

c.4914C>G

1 paper

NM_024408.4

p.H1638Q

c.4914C>A

2 papers

NM_024408.4

p.H1638Y

c.4912C>T

1 paper

NM_024408.4

p.H1653Y

c.4957C>T