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.E2064*

c.6190G>T

Surrounding Variants

1 paper

NM_024408.4

p.V2067E

c.6200T>A

1 paper

NM_024408.4

p.R2060L

c.6179G>T

6 papers

NM_024408.4

p.R2060C

c.6178C>T

1 paper

NM_024408.4

p.V2059L

c.6175G>T

1 paper

NM_024408.4

p.V2059_R2060insT

c.6175_6179ins3

1 paper

NM_024408.4

p.V2059L

c.6175G>C

2 papers

NM_024408.4

p.P2069fs

c.6205_6206fs

1 paper

NM_024408.4

p.P2069fs

c.6205_6206fs

2 papers

NM_024408.4

p.P2069delFs

c.6206delG

1 paper

NM_024408.4

p.D2057insFs

c.6169dupG

2 papers

NM_024408.4

p.P2071T

c.6211C>A

1 paper

NM_024408.4

p.D2057fs

c.6169_6170fs