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.Q2444fs

c.7330_7331fs

Surrounding Variants

20 papers

NM_017617.5

p.Q2444*

c.7330C>T

7 papers

NM_017617.5

p.V2443fs

c.7327_7328fs

1 paper

NM_017617.5

p.Q2444R

c.7331A>G

1 paper

NM_017617.5

p.Q2444insFs

c.7331_7332ins8

1 paper

NM_017617.5

p.V2443insFs

c.7328_7329insCT

1 paper

NM_017617.5

p.V2443insFs

c.7327_7328insGG

1 paper

NM_017617.5

p.V2443insFs

c.7327_7328ins11

1 paper

NM_017617.5

p.D2442_V2443insFs

c.7326_7327ins11

1 paper

NM_017617.5

p.V2443G

c.7328T>G

1 paper

NM_017617.5

p.V2443E

c.7328T>A

1 paper

NM_017617.5

p.V2443delins

c.7327_7328delinsACCCTTTGACTCCC

1 paper

NM_017617.5

p.Q2444_P2445insFs

c.7332_7333ins13