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

2 papers

NM_004557.4

p.Q948*

c.2842C>T

Surrounding Variants

1 paper

NM_004557.4

p.R937_Q948delFs

c.2811_2844del34

1 paper

NM_004557.4

p.R937_Q948del12

c.2809_2843del36

1 paper

NM_004557.4

p.M946I

c.2838G>T

1 paper

NM_004557.4

p.M946I

c.2838G>C

1 paper

NM_004557.4

p.M946I

c.2838G>A

1 paper

NM_004557.4

p.C945F

c.2834G>T

1 paper

NM_004557.4

p.C945Y

c.2834G>A

1 paper

NM_004557.4

p.G942delins

c.2825_2826delinsAC

7 papers

NM_004557.4

p.G942R

c.2824G>C

7 papers

NM_004557.4

p.G942R

c.2824G>A

2 papers

NM_004557.4

p.Q955_C956Splc

c.2865+2T>C

2 papers

NM_004557.4

p.R937S

c.2811G>T