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.M2054L

c.6160A>C

Surrounding Variants

1 paper

NM_024408.4

p.M2054L

c.6160A>T

1 paper

NM_024408.4

p.R2053R

c.6159C>T

2 papers

NM_024408.4

p.M2054I

c.6162G>T

2 papers

NM_024408.4

p.M2054I

c.6162G>C

4 papers

NM_024408.4

p.R2053H

c.6158G>A

3 papers

NM_024408.4

p.M2054I

c.6162G>A

3 papers

NM_024408.4

p.R2053C

c.6157C>T

1 paper

NM_024408.4

p.H2055R

c.6164A>G

1 paper

NM_024408.4

p.D2057fs

c.6169_6170fs

1 paper

NM_024408.4

p.D2057insFs

c.6169dupG

1 paper

NM_024408.4

p.V2059L

c.6175G>T

1 paper

NM_024408.4

p.V2059_R2060insT

c.6175_6179ins3