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

2 papers

NM_000435.3

p.C1193Y

c.3578G>A

Surrounding Variants

1 paper

NM_000435.3

p.C1193fs

c.3577_3578fs

1 paper

NM_000435.3

p.C1193R

c.3577T>C

1 paper

NM_000435.3

p.T1192delFs

c.3576delG

1 paper

NM_000435.3

p.P1194L

c.3581C>T

1 paper

NM_000435.3

p.C1191S

c.3572G>C

1 paper

NM_000435.3

p.C1191S

c.3571T>A

1 paper

NM_000435.3

p.P1195insFs

c.3584_3585insC

1 paper

NM_000435.3

p.P1195fs

c.3583_3584fs

5 papers

NM_000435.3

p.R1190H

c.3569G>A

8 papers

NM_000435.3

p.R1190C

c.3568C>T

1 paper

NM_000435.3

p.G1199A

c.3596G>C

1 paper

NM_000435.3

p.G1187D

c.3560G>A