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

4 papers

NM_017617.5

p.C292Y

c.875G>A

Surrounding Variants

1 paper

NM_017617.5

p.C292C

c.876T>C

1 paper

NM_017617.5

p.C292*

c.876T>A

4 papers

NM_017617.5

p.Y291*

c.873C>G

3 papers

NM_017617.5

p.Y291*

c.873C>A

1 paper

NM_017617.5

p.T293N

c.878C>A

4 papers

NM_017617.5

p.E294*

c.880G>T

1 paper

NM_017617.5

p.Q290fs

c.868_869fs

1 paper

NM_017617.5

p.E294fs

c.880_881fs

1 paper

NM_017617.5

p.E294delFs

c.880delC

1 paper

NM_017617.5

p.Q290_E294delFs

c.870_880del11

1 paper

NM_017617.5

p.E294_D295insFs

c.882_883insCT

1 paper

NM_017617.5

p.E294fs

c.880_881fs