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.R2109W

c.6325C>T

Surrounding Variants

2 papers

NM_000435.3

p.R2109Q

c.6326G>A

1 paper

NM_000435.3

p.P2108L

c.6323C>T

1 paper

NM_000435.3

p.S2107Y

c.6320C>A

1 paper

NM_000435.3

p.G2112S

c.6334G>A

1 paper

NM_000435.3

p.S2104S

c.6312G>A

1 paper

NM_000435.3

p.S2104L

c.6311C>T

1 paper

NM_000435.3

p.D2103N

c.6307G>A

1 paper

NM_000435.3

p.P2115L

c.6344C>T

1 paper

NM_000435.3

p.S2117F

c.6350C>T

1 paper

NM_000435.3

p.L2099M

c.6295C>A

1 paper

NM_000435.3

p.T2098T

c.6294G>A

1 paper

NM_000435.3

p.S2096S

c.6288G>A