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.P2233fs

c.6697_6698fs

Surrounding Variants

1 paper

NM_024408.4

p.S2232delFs

c.6696delA

1 paper

NM_024408.4

p.G2234C

c.6700G>T

1 paper

NM_024408.4

p.S2235T

c.6704G>C

1 paper

NM_024408.4

p.G2236C

c.6706G>T

1 paper

NM_024408.4

p.S2237N

c.6710G>A

1 paper

NM_024408.4

p.H2228Q

c.6684C>G

1 paper

NM_024408.4

p.H2228Q

c.6684C>A

1 paper

NM_024408.4

p.H2227fs

c.6679_6680fs

1 paper

NM_024408.4

p.S2235_G2236del2

c.6703_6707del6

1 paper

NM_024408.4

p.H2227insFs

c.6679dupC

1 paper

NM_024408.4

p.L2225_S2226del2

c.6673_6677del6

1 paper

NM_024408.4

p.G2239R

c.6715G>C