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.E313_D316del0

c.937_948del12

Surrounding Variants

1 paper

NM_004557.4

p.C318*

c.954T>A

1 paper

NM_004557.4

p.E319*

c.955G>T

1 paper

NM_004557.4

p.V315E

c.944T>A

13 papers

NM_004557.4

p.T320A

c.958A>G

1 paper

NM_004557.4

p.S312F

c.935C>T

1 paper

NM_004557.4

p.P324S

c.970C>T

2 papers

NM_004557.4

p.H325Y

c.973C>T

1 paper

NM_004557.4

p.D310N

c.928G>A

1 paper

NM_004557.4

p.W309*

c.927G>A

1 paper

NM_004557.4

p.W309S

c.926G>C

1 paper

NM_004557.4

p.W309*

c.926G>A

1 paper

NM_004557.4

p.G329R

c.985G>A