Varaico: Literature-Extracted Genetic Variants

NOTCH3

1,962 papers

RefSeq Summary

This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) est...

Pfam Domains

EGFaa 43–75UCSCEGF-like domain

EGFaa 123–154UCSCEGF-like domain

EGF_CAaa 158–201UCSCCalcium-binding EGF domain

EGFaa 201–232UCSCEGF-like domain

hEGFaa 245–266UCSCHuman growth factor-like EGF

EGF_CAaa 274–314UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

notch receptor 3

HGNC Previous Symbol

CADASIL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000435.3

p.P2271P

c.6813T>C

Surrounding Variants

4 papers

NM_000435.3

p.T2270M

c.6809C>T

1 paper

NM_000435.3

p.P2273T

c.6817C>A

1 paper

NM_000435.3

p.A2274T

c.6820G>A

1 paper

NM_000435.3

p.A2274D

c.6821C>A

1 paper

NM_000435.3

p.E2268K

c.6802G>A

2 papers

NM_000435.3

p.M2280V

c.6838A>G

1 paper

NM_000435.3

p.A2281P

c.6841G>C

2 papers

NM_000435.3

p.S2262F

c.6785C>T

1 paper

NM_000435.3

p.A2281V

c.6842C>T

1 paper

NM_000435.3

p.T2282A

c.6844A>G

1 paper

NM_000435.3

p.T2284N

c.6851C>A

1 paper

NM_000435.3

p.P2258L

c.6773C>T