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

3 papers

NM_000435.3

p.C1157R

c.3469T>C

Surrounding Variants

1 paper

NM_000435.3

p.C1157C

c.3471C>T

4 papers

NM_000435.3

p.C1157W

c.3471C>G

2 papers

NM_000435.3

p.I1159V

c.3475A>G

1 paper

NM_000435.3

p.G1154E

c.3461G>A

1 paper

NM_000435.3

p.D1162N

c.3484G>A

1 paper

NM_000435.3

p.G1154Splc

c.3461-15C>T

2 papers

NM_000435.3

p.G1165C

c.3493G>T

2 papers

NM_000435.3

p.P1166S

c.3496C>T

1 paper

NM_000435.3

p.P1169P

c.3507G>T

2 papers

NM_000435.3

p.D1171V

c.3512A>T

1 paper

NM_000435.3

p.G1173E

c.3518G>A

1 paper

NM_000435.3

p.P1174S

c.3520C>T