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.A86V

c.257C>T

Surrounding Variants

2 papers

NM_004557.4

p.P85P

c.255C>T

1 paper

NM_004557.4

p.L88L

c.262C>T

1 paper

NM_004557.4

p.L88Q

c.263T>A

1 paper

NM_004557.4

p.L84F

c.250C>T

2 papers

NM_004557.4

p.A82V

c.245C>T

1 paper

NM_004557.4

p.S93C

c.278C>G

1 paper

NM_004557.4

p.N76K

c.228T>G

1 paper

NM_004557.4

p.N76K

c.228T>A

1 paper

NM_004557.4

p.T98A

c.292A>G

1 paper

NM_004557.4

p.S100N

c.299G>A

1 paper

NM_004557.4

p.A71T

c.211G>A

1 paper

NM_004557.4

p.C103Y

c.308G>A