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

53 papers

NM_000435.3

p.R1006C

c.3016C>T

Surrounding Variants

1 paper

NM_000435.3

p.S1005delFs

c.3014delC

1 paper

NM_000435.3

p.S1005fs

c.3013_3014fs

5 papers

NM_000435.3

p.C1004Y

c.3011G>A

7 papers

NM_000435.3

p.C1004G

c.3010T>G

2 papers

NM_000435.3

p.P1008S

c.3022C>T

5 papers

NM_000435.3

p.W1003C

c.3009G>T

5 papers

NM_000435.3

p.W1003C

c.3009G>C

1 paper

NM_000435.3

p.C1009R

c.3025T>C

3 papers

NM_000435.3

p.C1009F

c.3026G>T

1 paper

NM_000435.3

p.Q1010R

c.3029A>G

4 papers

NM_000435.3

p.G1013C

c.3037G>T

1 paper

NM_000435.3

p.Q998_T999Splc

c.2995-1G>A