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.G403E

c.1208G>A

Surrounding Variants

4 papers

NM_004557.4

p.D404V

c.1211A>T

1 paper

NM_004557.4

p.D404Fs

c.1210_1211delinsTFs

1 paper

NM_004557.4

p.P400T

c.1198C>A

1 paper

NM_004557.4

p.Q406Q

c.1218A>G

1 paper

NM_004557.4

p.S408R

c.1222A>C

1 paper

NM_004557.4

p.S408R

c.1224C>G

1 paper

NM_004557.4

p.S408R

c.1224C>A

1 paper

NM_004557.4

p.L397Q

c.1190T>A

1 paper

NM_004557.4

p.E393V

c.1178A>T

2 papers

NM_004557.4

p.S415F

c.1244C>T

1 paper

NM_004557.4

p.C390Y

c.1169G>A

1 paper

NM_004557.4

p.C390R

c.1168T>C