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

1 paper

NM_017617.5

p.N308_T311del0

c.923_931del9

Surrounding Variants

1 paper

NM_017617.5

p.T311I

c.932C>T

1 paper

NM_017617.5

p.T311S

c.932C>G

1 paper

NM_017617.5

p.T311S

c.931A>T

2 papers

NM_017617.5

p.T311A

c.931A>G

14 papers

NM_017617.5

p.T311P

c.931A>C

1 paper

NM_017617.5

p.T311insFs

c.933dupC

1 paper

NM_017617.5

p.C312F

c.935G>T

1 paper

NM_017617.5

p.G310V

c.929G>T

1 paper

NM_017617.5

p.G310A

c.929G>C

5 papers

NM_017617.5

p.G310E

c.929G>A

2 papers

NM_017617.5

p.C312Y

c.935G>A

1 paper

NM_017617.5

p.A305_G309del5

c.913_926del15