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.P147H

c.440C>A

Surrounding Variants

1 paper

NM_004557.4

p.W149C

c.447G>T

1 paper

NM_004557.4

p.W149C

c.447G>C

1 paper

NM_004557.4

p.T150K

c.449C>A

1 paper

NM_004557.4

p.Q142Q

c.426G>A

1 paper

NM_004557.4

p.G151Splc

c.451+3A>G

3 papers

NM_004557.4

p.R140H

c.419G>A

2 papers

NM_004557.4

p.R140C

c.418C>T

1 paper

NM_004557.4

p.H134N

c.400C>A

1 paper

NM_004557.4

p.C133fs

c.397_398fs

1 paper

NM_004557.4

p.C133fs

c.397_398fs

1 paper

NM_004557.4

p.R132C

c.394C>T

1 paper

NM_004557.4

p.R130K

c.389G>A