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

3 papers

NM_004557.4

p.Q421R

c.1262A>G

Surrounding Variants

1 paper

NM_004557.4

p.C420R

c.1258T>C

1 paper

NM_004557.4

p.L417H

c.1250T>A

1 paper

NM_004557.4

p.G426A

c.1277G>C

2 papers

NM_004557.4

p.S415F

c.1244C>T

2 papers

NM_004557.4

p.C429R

c.1285T>C

1 paper

NM_004557.4

p.L433L

c.1297C>T

1 paper

NM_004557.4

p.S408R

c.1224C>G

1 paper

NM_004557.4

p.S408R

c.1224C>A

1 paper

NM_004557.4

p.S408R

c.1222A>C

1 paper

NM_004557.4

p.E435K

c.1303G>A

1 paper

NM_004557.4

p.Q406Q

c.1218A>G

1 paper

NM_004557.4

p.L437L

c.1309C>T