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

8 papers

NM_000435.3

p.C1131W

c.3393C>G

Surrounding Variants

1 paper

NM_000435.3

p.C1131F

c.3392G>T

1 paper

NM_000435.3

p.P1130L

c.3389C>T

1 paper

NM_000435.3

p.H1133D

c.3397C>G

1 paper

NM_000435.3

p.H1133H

c.3399C>T

28 papers

NM_000435.3

p.H1133Q

c.3399C>G

30 papers

NM_000435.3

p.H1133Q

c.3399C>A

1 paper

NM_000435.3

p.G1134R

c.3400G>C

1 paper

NM_000435.3

p.G1134R

c.3400G>A

2 papers

NM_000435.3

p.S1128F

c.3383C>T

1 paper

NM_000435.3

p.S1128P

c.3382T>C

1 paper

NM_000435.3

p.S1136A

c.3406T>G

4 papers

NM_000435.3

p.C1137R

c.3409T>C