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

1–12 of 816 variants

20 papers

NM_004557.4

p.K117Q

c.349A>C

14 papers

NM_004557.4

p.D272G

c.815A>G

13 papers

NM_004557.4

p.L15_L16del1

c.45_47delAGC

13 papers

NM_004557.4

p.T320A

c.958A>G

13 papers

NM_004557.4

p.G534S

c.1600G>A

11 papers

NM_004557.4

p.L6_L10del0

c.17_28del12

11 papers

NM_004557.4

p.L16del1

c.46_47delTAG

11 papers

NM_004557.4

p.C815G

c.2443T>G

7 papers

NM_004557.4

p.G942R

c.2824G>C

7 papers

NM_004557.4

p.G942R

c.2824G>A

6 papers

NM_004557.4

p.S45_G47del3

c.133_140del9

6 papers

NM_004557.4

p.A36_G47del12

c.106_140del36