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.L27L

c.79C>T

Surrounding Variants

1 paper

NM_004557.4

p.S30G

c.88A>G

1 paper

NM_004557.4

p.E33K

c.97G>A

1 paper

NM_004557.4

p.N37fs

c.109_110fs

3 papers

NM_004557.4

p.A36_G38del3

c.106_113del9

1 paper

NM_004557.4

p.T40P

c.118A>C

1 paper

NM_004557.4

p.L42L

c.124C>T

1 paper

NM_004557.4

p.L44_S45insGCT

c.130_134ins9

2 papers

NM_004557.4

p.L44_S45ins6

c.130_134ins18

2 papers

NM_004557.4

p.L44_S45ins9

c.130_134ins27

1 paper

NM_004557.4

p.L44P

c.131T>C

1 paper

NM_004557.4

p.A36_L44del9

c.106_131del27

1 paper

NM_004557.4

p.E33_L44del12

c.97_131del36