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.Q261Fs

c.781delinsCCATAFs

Surrounding Variants

1 paper

NM_000435.3

p.Q261*

c.781C>T

2 papers

NM_000435.3

p.C262R

c.784T>C

1 paper

NM_000435.3

p.C260*

c.780C>A

5 papers

NM_000435.3

p.C260F

c.779G>T

1 paper

NM_000435.3

p.C260S

c.779G>C

7 papers

NM_000435.3

p.C260Y

c.779G>A

6 papers

NM_000435.3

p.C260G

c.778T>G

4 papers

NM_000435.3

p.C260R

c.778T>C

1 paper

NM_000435.3

p.C262W

c.786C>G

1 paper

NM_000435.3

p.G254_N259delFs

c.760_776del17

1 paper

NM_000435.3

p.P264L

c.791C>T

21 papers

NM_000435.3

p.Y258C

c.773A>G