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.C511S

c.1531T>A

Surrounding Variants

7 papers

NM_000435.3

p.C511R

c.1531T>C

6 papers

NM_000435.3

p.C511F

c.1532G>T

13 papers

NM_000435.3

p.C511Y

c.1532G>A

1 paper

NM_000435.3

p.E510*

c.1528G>T

2 papers

NM_000435.3

p.A512T

c.1534G>A

1 paper

NM_000435.3

p.E510K

c.1528G>A

1 paper

NM_000435.3

p.V508M

c.1522G>A

1 paper

NM_000435.3

p.T514M

c.1541C>T

2 papers

NM_000435.3

p.D507E

c.1521C>G

2 papers

NM_000435.3

p.D507E

c.1521C>A

1 paper

NM_000435.3

p.D507A

c.1520A>C

8 papers

NM_000435.3

p.C516F

c.1547G>T