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

1 paper

NM_004557.4

p.C332S

c.994T>A

Surrounding Variants

1 paper

NM_004557.4

p.C332S

c.995G>C

1 paper

NM_004557.4

p.G329R

c.985G>A

1 paper

NM_004557.4

p.S335Y

c.1004C>A

2 papers

NM_004557.4

p.G337D

c.1010G>A

2 papers

NM_004557.4

p.H325Y

c.973C>T

1 paper

NM_004557.4

p.P324S

c.970C>T

2 papers

NM_004557.4

p.V342M

c.1024G>A

13 papers

NM_004557.4

p.T320A

c.958A>G

1 paper

NM_004557.4

p.E319*

c.955G>T

1 paper

NM_004557.4

p.V344insFs

c.1031_1032dupTG

1 paper

NM_004557.4

p.C318*

c.954T>A

1 paper

NM_004557.4

p.G346D

c.1037G>A