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.L2137delFs

c.6409_6410delAG

Surrounding Variants

1 paper

NM_000435.3

p.L2137fs

c.6409_6410fs

1 paper

NM_000435.3

p.S2136fs

c.6406_6407fs

1 paper

NM_000435.3

p.S2136C

c.6407C>G

1 paper

NM_000435.3

p.T2133fs

c.6397_6398fs

3 papers

NM_000435.3

p.R2145Q

c.6434G>A

1 paper

NM_000435.3

p.A2129T

c.6385G>A

1 paper

NM_000435.3

p.A2146E

c.6437C>A

1 paper

NM_000435.3

p.A2146fs

c.6436_6437fs

7 papers

NM_000435.3

p.A2146A

c.6438G>A

1 paper

NM_000435.3

p.A2128V

c.6383C>T

1 paper

NM_000435.3

p.L2148I

c.6442C>A

1 paper

NM_000435.3

p.Y2127C

c.6380A>G