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.R373W

c.1117C>T

Surrounding Variants

1 paper

NM_004557.4

p.R373Q

c.1118G>A

2 papers

NM_004557.4

p.T369I

c.1106C>T

1 paper

NM_004557.4

p.G367*

c.1099G>T

1 paper

NM_004557.4

p.C379Y

c.1136G>A

1 paper

NM_004557.4

p.L380L

c.1140C>T

2 papers

NM_004557.4

p.P383S

c.1147C>T

2 papers

NM_004557.4

p.A361P

c.1081G>C

2 papers

NM_004557.4

p.R385C

c.1153C>T

1 paper

NM_004557.4

p.E354D

c.1062G>T

1 paper

NM_004557.4

p.E354D

c.1062G>C

1 paper

NM_004557.4

p.C352Y

c.1055G>A

3 papers

NM_004557.4

p.G349fs

c.1045_1046fs