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

11 papers

NM_004557.4

p.L16del1

c.46_47delTAG

Surrounding Variants

1 paper

NM_004557.4

p.C17_V18ins7

c.49_53ins21

1 paper

NM_004557.4

p.C17R

c.49T>C

2 papers

NM_004557.4

p.L15_L16del2

c.43_47del6

1 paper

NM_004557.4

p.L14_L16del3

c.40_47del9

3 papers

NM_004557.4

p.L12_L16del5

c.34_47del15

1 paper

NM_004557.4

p.C17F

c.50G>T

1 paper

NM_004557.4

p.C17Y

c.50G>A

1 paper

NM_004557.4

p.L16L

c.48A>G

5 papers

NM_004557.4

p.L15_L16ins0

c.45_47dupGCT

1 paper

NM_004557.4

p.L14_L16ins1

c.42_47dup6

2 papers

NM_004557.4

p.L13_L16ins1

c.39_47dup9

1 paper

NM_004557.4

p.L16fs

c.46_47fs