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.A2178S

c.6532G>T

Surrounding Variants

2 papers

NM_024408.4

p.G2174R

c.6520G>C

3 papers

NM_024408.4

p.G2174R

c.6520G>A

1 paper

NM_024408.4

p.M2183V

c.6547A>G

1 paper

NM_024408.4

p.S2172S

c.6516C>T

1 paper

NM_024408.4

p.S2172F

c.6515C>T

1 paper

NM_024408.4

p.L2184M

c.6550T>A

1 paper

NM_024408.4

p.L2184F

c.6552G>T

1 paper

NM_024408.4

p.L2184F

c.6552G>C

1 paper

NM_024408.4

p.T2171A

c.6511A>G

2 papers

NM_024408.4

p.I2170F

c.6508A>T

1 paper

NM_024408.4

p.T2186fs

c.6556_6557fs

1 paper

NM_024408.4

p.P2168fs

c.6502_6503fs