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

107 papers

NM_000435.3

p.R75P

c.224G>C

Surrounding Variants

3 papers

NM_000435.3

p.R75L

c.224G>T

25 papers

NM_000435.3

p.R75Q

c.224G>A

2 papers

NM_000435.3

p.R75W

c.223C>T

3 papers

NM_000435.3

p.R75G

c.223C>G

10 papers

NM_000435.3

p.C76R

c.226T>C

5 papers

NM_000435.3

p.C76Y

c.227G>A

6 papers

NM_000435.3

p.C76W

c.228T>G

1 paper

NM_000435.3

p.E74K

c.220G>A

8 papers

NM_000435.3

p.G73A

c.218G>C

1 paper

NM_000435.3

p.G73D

c.218G>A

1 paper

NM_000435.3

p.Q77P

c.230A>C

3 papers

NM_000435.3

p.G73S

c.217G>A