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.P2289_G2291delFs

c.6867_6871del5

Surrounding Variants

1 paper

NM_024408.4

p.G2291E

c.6872G>A

2 papers

NM_024408.4

p.G2291W

c.6871G>T

2 papers

NM_024408.4

p.G2291fs

c.6871_6872fs

1 paper

NM_024408.4

p.K2292fs

c.6874_6875fs

1 paper

NM_024408.4

p.K2292*

c.6874A>T

2 papers

NM_024408.4

p.G2291insFs

c.6873dupG

1 paper

NM_024408.4

p.G2291delFs

c.6873delC

1 paper

NM_024408.4

p.E2290A

c.6869A>C

4 papers

NM_024408.4

p.E2290*

c.6868G>T

2 papers

NM_024408.4

p.K2292fs

c.6874_6875fs

1 paper

NM_024408.4

p.E2290_G2291ins11

c.6868_6872ins33

3 papers

NM_024408.4

p.E2290K

c.6868G>A