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.S2492S

c.7476G>A

Surrounding Variants

1 paper

NM_017617.5

p.S2492_P2493insFs

c.7476_7477ins7

1 paper

NM_017617.5

p.P2493fs

c.7477_7478fs

1 paper

NM_017617.5

p.S2492L

c.7475C>T

10 papers

NM_017617.5

p.S2492*

c.7475C>A

1 paper

NM_017617.5

p.S2491_S2492insFs

c.7473_7474ins4

1 paper

NM_017617.5

p.P2493L

c.7478C>T

1 paper

NM_017617.5

p.V2494insFs

c.7481_7482insG

2 papers

NM_017617.5

p.V2494fs

c.7480_7481fs

7 papers

NM_017617.5

p.Y2490*

c.7470C>G

7 papers

NM_017617.5

p.Y2490*

c.7470C>A

1 paper

NM_017617.5

p.V2494delFs

c.7481_7482delCA

1 paper

NM_017617.5

p.Y2490insFs

c.7468_7469ins49