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.C815G

c.2443T>G

Surrounding Variants

1 paper

NM_004557.4

p.A819P

c.2455G>C

1 paper

NM_004557.4

p.T820P

c.2458A>C

1 paper

NM_004557.4

p.D823N

c.2467G>A

1 paper

NM_004557.4

p.R829C

c.2485C>T

1 paper

NM_004557.4

p.R829H

c.2486G>A

1 paper

NM_004557.4

p.L831I

c.2491C>A

1 paper

NM_004557.4

p.P833L

c.2498C>T

1 paper

NM_004557.4

p.T834I

c.2501C>T

6 papers

NM_004557.4

p.G835V

c.2504G>T

1 paper

NM_004557.4

p.G838R

c.2512G>C

1 paper

NM_004557.4

p.G838R

c.2512G>A

1 paper

NM_004557.4

p.G838E

c.2513G>A