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

1 paper

NM_000435.3

p.L2072M

c.6214C>A

Surrounding Variants

1 paper

NM_000435.3

p.L2072V

c.6214C>G

1 paper

NM_000435.3

p.G2073W

c.6217G>T

2 papers

NM_000435.3

p.G2073V

c.6218G>T

2 papers

NM_000435.3

p.A2070V

c.6209C>T

7 papers

NM_000435.3

p.P2074L

c.6221C>T

1 paper

NM_000435.3

p.P2074Q

c.6221C>A

1 paper

NM_000435.3

p.G2068fs

c.6202_6203fs

1 paper

NM_000435.3

p.Q2075fs

c.6223_6224fs

1 paper

NM_000435.3

p.P2067L

c.6200C>T

1 paper

NM_000435.3

p.P2067S

c.6199C>T

1 paper

NM_000435.3

p.P2077L

c.6230C>T

1 paper

NM_000435.3

p.R2078W

c.6232C>T