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.L2148V

c.6442T>G

Surrounding Variants

4 papers

NM_024408.4

p.L2148*

c.6443T>G

4 papers

NM_024408.4

p.L2148*

c.6443T>A

1 paper

NM_024408.4

p.S2149F

c.6446C>T

1 paper

NM_024408.4

p.P2150fs

c.6448_6449fs

1 paper

NM_024408.4

p.P2150L

c.6449C>T

1 paper

NM_024408.4

p.P2150R

c.6449C>G

1 paper

NM_024408.4

p.P2150insFs

c.6449_6450insG

3 papers

NM_024408.4

p.P2150fs

c.6448_6449fs

1 paper

NM_024408.4

p.P2150delFs

c.6449delG

2 papers

NM_024408.4

p.S2145*

c.6434C>G

2 papers

NM_024408.4

p.S2145*

c.6434C>A

4 papers

NM_024408.4

p.V2151L

c.6451G>C