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.S913T

c.2737T>A

Surrounding Variants

1 paper

NM_004557.4

p.S913C

c.2738C>G

1 paper

NM_004557.4

p.P912L

c.2735C>T

1 paper

NM_004557.4

p.P912S

c.2734C>T

1 paper

NM_004557.4

p.C916Y

c.2747G>A

1 paper

NM_004557.4

p.D909N

c.2725G>A

5 papers

NM_004557.4

p.P919L

c.2756C>T

1 paper

NM_004557.4

p.P920fs

c.2758_2759fs

1 paper

NM_004557.4

p.P920delFs

c.2759delG

1 paper

NM_004557.4

p.G904R

c.2710G>C

1 paper

NM_004557.4

p.G904R

c.2710G>A

1 paper

NM_004557.4

p.C901fs

c.2701_2702fs

1 paper

NM_004557.4

p.L900I

c.2698C>A