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

10 papers

NM_024408.4

p.Q2140*

c.6418C>T

Surrounding Variants

1 paper

NM_024408.4

p.V2139A

c.6416T>C

6 papers

NM_024408.4

p.L2141L

c.6421C>T

2 papers

NM_024408.4

p.L2141V

c.6421C>G

2 papers

NM_024408.4

p.S2142P

c.6424T>C

1 paper

NM_024408.4

p.S2136_E2137delFs

c.6408_6411del4

2 papers

NM_024408.4

p.S2142fs

c.6424_6425fs

1 paper

NM_024408.4

p.L2135_E2137delFs

c.6405_6409del5

6 papers

NM_024408.4

p.E2143*

c.6427G>T

4 papers

NM_024408.4

p.E2137*

c.6409G>T

8 papers

NM_024408.4

p.S2142insFs

c.6426dupT

3 papers

NM_024408.4

p.S2142_E2143insFs

c.6426_6427insTT

2 papers

NM_024408.4

p.E2143fs

c.6427_6428fs