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

9 papers

NM_000435.3

p.C1119Y

c.3356G>A

Surrounding Variants

1 paper

NM_000435.3

p.C1119C

c.3357T>C

2 papers

NM_000435.3

p.E1120K

c.3358G>A

2 papers

NM_000435.3

p.N1118I

c.3353A>T

2 papers

NM_000435.3

p.N1118Y

c.3352A>T

1 paper

NM_000435.3

p.D1122D

c.3366C>T

2 papers

NM_000435.3

p.N1115D

c.3343A>G

1 paper

NM_000435.3

p.D1124N

c.3370G>A

1 paper

NM_000435.3

p.D1124G

c.3371A>G

1 paper

NM_000435.3

p.Y1114C

c.3341A>G

1 paper

NM_000435.3

p.S1128P

c.3382T>C

1 paper

NM_000435.3

p.C1110S

c.3329G>C

1 paper

NM_000435.3

p.C1110Y

c.3329G>A