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.Q1083Q

c.3249G>A

Surrounding Variants

1 paper

NM_000435.3

p.E1084*

c.3250G>T

1 paper

NM_000435.3

p.E1084G

c.3251A>G

1 paper

NM_000435.3

p.E1082K

c.3244G>A

1 paper

NM_000435.3

p.V1085V

c.3255G>T

1 paper

NM_000435.3

p.V1085V

c.3255G>A

1 paper

NM_000435.3

p.D1086Y

c.3256G>T

1 paper

NM_000435.3

p.C1081Y

c.3242G>A

5 papers

NM_000435.3

p.D1086A

c.3257A>C

1 paper

NM_000435.3

p.H1080Q

c.3240C>G

1 paper

NM_000435.3

p.H1080Q

c.3240C>A

1 paper

NM_000435.3

p.P1087L

c.3260C>T

1 paper

NM_000435.3

p.G1078_A1090del13

c.3232_3269del39