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.C103Y

c.308G>A

Surrounding Variants

2 papers

NM_004557.4

p.C103fs

c.307_308fs

1 paper

NM_004557.4

p.C103delFs

c.307_308delCA

3 papers

NM_004557.4

p.T104I

c.311C>T

1 paper

NM_004557.4

p.C105F

c.314G>T

1 paper

NM_004557.4

p.S100N

c.299G>A

1 paper

NM_004557.4

p.L106L

c.318C>G

1 paper

NM_004557.4

p.P107L

c.320C>T

1 paper

NM_004557.4

p.T98A

c.292A>G

1 paper

NM_004557.4

p.G111S

c.331G>A

1 paper

NM_004557.4

p.G111V

c.332G>T

3 papers

NM_004557.4

p.G111G

c.333T>C

1 paper

NM_004557.4

p.R113K

c.338G>A