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.A520S

c.1558G>T

Surrounding Variants

1 paper

NM_004557.4

p.A526T

c.1576G>A

1 paper

NM_004557.4

p.E513D

c.1539G>T

1 paper

NM_004557.4

p.E513D

c.1539G>C

1 paper

NM_004557.4

p.A526V

c.1577C>T

1 paper

NM_004557.4

p.V512_E513delFs

c.1536_1537delCC

1 paper

NM_004557.4

p.E513Q

c.1537G>C

1 paper

NM_004557.4

p.D527N

c.1579G>A

1 paper

NM_004557.4

p.E511K

c.1531G>A

1 paper

NM_004557.4

p.L509I

c.1525C>A

1 paper

NM_004557.4

p.Q508*

c.1522C>T

1 paper

NM_004557.4

p.G507W

c.1519G>T

13 papers

NM_004557.4

p.G534S

c.1600G>A