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

2 papers

NM_024408.4

p.A2275D

c.6824C>A

Surrounding Variants

1 paper

NM_024408.4

p.A2275fs

c.6823_6824fs

1 paper

NM_024408.4

p.E2276K

c.6826G>A

2 papers

NM_024408.4

p.P2274L

c.6821C>T

1 paper

NM_024408.4

p.P2274delins

c.6820_6821delinsTT

1 paper

NM_024408.4

p.A2275_E2276delFs

c.6825_6826delCA

1 paper

NM_024408.4

p.E2276fs

c.6826_6827fs

1 paper

NM_024408.4

p.P2274T

c.6820C>A

1 paper

NM_024408.4

p.E2276delFs

c.6826_6827delTC

1 paper

NM_024408.4

p.G2277G

c.6831C>T

1 paper

NM_024408.4

p.T2278P

c.6832A>C

1 paper

NM_024408.4

p.T2278I

c.6833C>T

1 paper

NM_024408.4

p.T2278insFs

c.6832dupA