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

78 papers

NM_000435.3

p.R332C

c.994C>T

Surrounding Variants

1 paper

NM_000435.3

p.D317_D331del15

c.949_992del45

1 paper

NM_000435.3

p.R332H

c.995G>A

1 paper

NM_000435.3

p.D331E

c.993C>G

1 paper

NM_000435.3

p.D331E

c.993C>A

1 paper

NM_000435.3

p.D331G

c.992A>G

1 paper

NM_000435.3

p.V333delFs

c.998_999delCA

1 paper

NM_000435.3

p.C329S

c.986G>C

5 papers

NM_000435.3

p.C329Y

c.986G>A

1 paper

NM_000435.3

p.C329R

c.985T>C

1 paper

NM_000435.3

p.C329S

c.985T>A

1 paper

NM_000435.3

p.S335Fs

c.1003delinsGAFs

8 papers

NM_000435.3

p.S335C

c.1004C>G