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

2 papers

NM_017617.5

p.Y319*

c.957C>G

Surrounding Variants

1 paper

NM_017617.5

p.Y319_N320insFs

c.957_958insGT

2 papers

NM_017617.5

p.Y319*

c.957C>A

1 paper

NM_017617.5

p.N320K

c.960C>A

3 papers

NM_017617.5

p.C321G

c.961T>G

2 papers

NM_017617.5

p.C321R

c.961T>C

1 paper

NM_017617.5

p.C321S

c.961T>A

1 paper

NM_017617.5

p.C321F

c.962G>T

1 paper

NM_017617.5

p.C321S

c.962G>C

1 paper

NM_017617.5

p.H313_G317del5

c.937_950del15

1 paper

NM_017617.5

p.C321*

c.963C>A

1 paper

NM_017617.5

p.V322L

c.964G>T

1 paper

NM_017617.5

p.G317V

c.950G>T