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.S2248F

c.6743C>T

Surrounding Variants

2 papers

NM_000435.3

p.S2248S

c.6744C>T

1 paper

NM_000435.3

p.P2249S

c.6745C>T

1 paper

NM_000435.3

p.E2250K

c.6748G>A

1 paper

NM_000435.3

p.E2241_T2246delFs

c.6723_6736del14

1 paper

NM_000435.3

p.S2251F

c.6752C>T

2 papers

NM_000435.3

p.S2251S

c.6753C>T

4 papers

NM_000435.3

p.Y2244*

c.6732C>G

7 papers

NM_000435.3

p.Y2244*

c.6732C>A

1 paper

NM_000435.3

p.P2243T

c.6727C>A

2 papers

NM_000435.3

p.W2255*

c.6764G>A

2 papers

NM_000435.3

p.W2255*

c.6765G>A

1 paper

NM_000435.3

p.P2239L

c.6716C>T