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.Y529*

c.1587C>A

Surrounding Variants

1 paper

NM_000435.3

p.Y529*

c.1587C>G

1 paper

NM_000435.3

p.E530K

c.1588G>A

1 paper

NM_000435.3

p.D524_E530delFs

c.1571_1589del19

6 papers

NM_000435.3

p.C531G

c.1591T>G

6 papers

NM_000435.3

p.C531S

c.1591T>A

1 paper

NM_000435.3

p.G528D

c.1583G>A

37 papers

NM_000435.3

p.G528C

c.1582G>T

6 papers

NM_000435.3

p.C531S

c.1592G>C

1 paper

NM_000435.3

p.C531Y

c.1592G>A

17 papers

NM_000435.3

p.R532C

c.1594C>T

1 paper

NM_000435.3

p.R532L

c.1595G>T

1 paper

NM_000435.3

p.Q525_P526del2

c.1573_1577del6