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

4 papers

NM_000435.3

p.G1013C

c.3037G>T

Surrounding Variants

1 paper

NM_000435.3

p.G1013fs

c.3037_3038fs

1 paper

NM_000435.3

p.R1014H

c.3041G>A

17 papers

NM_000435.3

p.C1015R

c.3043T>C

4 papers

NM_000435.3

p.C1015S

c.3043T>A

1 paper

NM_000435.3

p.C1015F

c.3044G>T

4 papers

NM_000435.3

p.C1015S

c.3044G>C

3 papers

NM_000435.3

p.C1015W

c.3045C>G

1 paper

NM_000435.3

p.Q1010R

c.3029A>G

1 paper

NM_000435.3

p.V1016F

c.3046G>T

1 paper

NM_000435.3

p.V1016I

c.3046G>A

3 papers

NM_000435.3

p.C1009F

c.3026G>T

1 paper

NM_000435.3

p.C1009R

c.3025T>C