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.F2509fs

c.7525_7526fs

Surrounding Variants

1 paper

NM_017617.5

p.P2508delFs

c.7524delG

1 paper

NM_017617.5

p.P2508delFs

c.7523_7524delGG

1 paper

NM_017617.5

p.F2509insFs

c.7526_7527insC

1 paper

NM_017617.5

p.P2508P

c.7524C>T

1 paper

NM_017617.5

p.P2508fs

c.7522_7523fs

2 papers

NM_017617.5

p.P2508L

c.7523C>T

1 paper

NM_017617.5

p.F2509insFs

c.7526_7527insT

2 papers

NM_017617.5

p.F2509fs

c.7525_7526fs

4 papers

NM_017617.5

p.L2510F

c.7528C>T

2 papers

NM_017617.5

p.L2510P

c.7529T>C

1 paper

NM_017617.5

p.Q2501_L2510delFs

c.7503_7528del26

1 paper

NM_017617.5

p.L2510fs

c.7528_7529fs