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.V344insFs

c.1031_1032dupTG

Surrounding Variants

1 paper

NM_004557.4

p.G346D

c.1037G>A

1 paper

NM_004557.4

p.W347L

c.1040G>T

2 papers

NM_004557.4

p.V342M

c.1024G>A

2 papers

NM_004557.4

p.G348G

c.1044C>G

2 papers

NM_004557.4

p.G348fs

c.1042_1043fs

5 papers

NM_004557.4

p.G349S

c.1045G>A

4 papers

NM_004557.4

p.G348delFs

c.1044delG

1 paper

NM_004557.4

p.G349fs

c.1045_1046fs

1 paper

NM_004557.4

p.G349D

c.1046G>A

3 papers

NM_004557.4

p.G349fs

c.1045_1046fs

1 paper

NM_004557.4

p.C352Y

c.1055G>A

2 papers

NM_004557.4

p.G337D

c.1010G>A