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

8 papers

NM_000435.3

p.S335C

c.1004C>G

Surrounding Variants

1 paper

NM_000435.3

p.S335Fs

c.1003delinsGAFs

1 paper

NM_000435.3

p.F336L

c.1006T>C

1 paper

NM_000435.3

p.A334_S335del2

c.1000_1004del6

1 paper

NM_000435.3

p.H325_S335del0

c.973_1005del33

1 paper

NM_000435.3

p.V333delFs

c.998_999delCA

1 paper

NM_000435.3

p.F336L

c.1008C>G

1 paper

NM_000435.3

p.F336L

c.1008C>A

13 papers

NM_000435.3

p.Y337C

c.1010A>G

13 papers

NM_000435.3

p.C338R

c.1012T>C

7 papers

NM_000435.3

p.C338S

c.1012T>A

2 papers

NM_000435.3

p.C338F

c.1013G>T

8 papers

NM_000435.3

p.C338S

c.1013G>C