Varaico: Literature-Extracted Genetic Variants

NOTCH1

2,810 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 106–137UCSCEGF-like domain

EGFaa 144–174UCSCEGF-like domain

EGF_CAaa 178–219UCSCCalcium-binding EGF domain

EGFaa 222–253UCSCEGF-like domain

EGFaa 261–291UCSCEGF-like domain

EGF_CAaa 295–335UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

notch receptor 1

HGNC Previous Symbol

TAN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_017617.5

p.C476R

c.1426T>C

Surrounding Variants

1 paper

NM_017617.5

p.C476G

c.1426T>G

3 papers

NM_017617.5

p.C476S

c.1426T>A

2 papers

NM_017617.5

p.C476F

c.1427G>T

3 papers

NM_017617.5

p.C476S

c.1427G>C

4 papers

NM_017617.5

p.C476Y

c.1427G>A

1 paper

NM_017617.5

p.C476C

c.1428C>T

2 papers

NM_017617.5

p.C476*

c.1428C>A

1 paper

NM_017617.5

p.Q475P

c.1424A>C

3 papers

NM_017617.5

p.Q475*

c.1423C>T

1 paper

NM_017617.5

p.A465_F474del10

c.1393_1421del30

1 paper

NM_017617.5

p.I477V

c.1429A>G

2 papers

NM_017617.5

p.I477T

c.1430T>C