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.G317insFs

c.949_950insC

Surrounding Variants

4 papers

NM_017617.5

p.G317C

c.949G>T

1 paper

NM_017617.5

p.G317S

c.949G>A

1 paper

NM_017617.5

p.G317V

c.950G>T

1 paper

NM_017617.5

p.H316Q

c.948C>A

1 paper

NM_017617.5

p.H316L

c.947A>T

1 paper

NM_017617.5

p.H316P

c.947A>C

1 paper

NM_017617.5

p.H313_G317del5

c.937_950del15

2 papers

NM_017617.5

p.T315I

c.944C>T

1 paper

NM_017617.5

p.T315S

c.944C>G

1 paper

NM_017617.5

p.T315P

c.943A>C

1 paper

NM_017617.5

p.N314N

c.942C>T

2 papers

NM_017617.5

p.Y319*

c.957C>G