Varaico: Literature-Extracted Genetic Variants

NOTCH4

532 papers

RefSeq Summary

This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multipl...

Pfam Domains

EGFaa 28–61UCSCEGF-like domain

hEGFaa 127–149UCSCHuman growth factor-like EGF

EGFaa 160–190UCSCEGF-like domain

EGF_CAaa 194–238UCSCCalcium-binding EGF domain

EGFaa 238–272UCSCEGF-like domain

EGFaa 280–308UCSCEGF-like domain

Gene Aliases

HGNC Name

notch receptor 4

HGNC Previous Symbol

INT3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_004557.4

p.D272G

c.815A>G

Surrounding Variants

6 papers

NM_004557.4

p.P271_D272delins

c.813_815delinsGGG

1 paper

NM_004557.4

p.D272N

c.814G>A

1 paper

NM_004557.4

p.P271P

c.813A>G

1 paper

NM_004557.4

p.G270D

c.809G>A

1 paper

NM_004557.4

p.P277S

c.829C>T

1 paper

NM_004557.4

p.H283R

c.848A>G

1 paper

NM_004557.4

p.Q284H

c.852G>T

1 paper

NM_004557.4

p.Q284H

c.852G>C

2 papers

NM_004557.4

p.Q284Q

c.852G>A

1 paper

NM_004557.4

p.G288V

c.863G>T

1 paper

NM_004557.4

p.Q292R

c.875A>G

1 paper

NM_004557.4

p.L295M

c.883C>A