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

5 papers

NM_000435.3

p.K2083*

c.6247A>T

Surrounding Variants

1 paper

NM_000435.3

p.G2081V

c.6242G>T

1 paper

NM_000435.3

p.T2085_L2086insC

c.6253_6257ins3

2 papers

NM_000435.3

p.R2080Q

c.6239G>A

1 paper

NM_000435.3

p.G2079W

c.6235G>T

1 paper

NM_000435.3

p.R2078Q

c.6233G>A

1 paper

NM_000435.3

p.R2078W

c.6232C>T

1 paper

NM_000435.3

p.R2078G

c.6232C>G

1 paper

NM_000435.3

p.P2077L

c.6230C>T

1 paper

NM_000435.3

p.C2088*

c.6264C>A

1 paper

NM_000435.3

p.P2089T

c.6265C>A

1 paper

NM_000435.3

p.P2089L

c.6266C>T

1 paper

NM_000435.3

p.G2090fs

c.6268_6269fs