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.I451I

c.1353C>A

Surrounding Variants

2 papers

NM_017617.5

p.D452Y

c.1354G>T

6 papers

NM_017617.5

p.D452N

c.1354G>A

3 papers

NM_017617.5

p.D452G

c.1355A>G

1 paper

NM_017617.5

p.I451V

c.1351A>G

1 paper

NM_017617.5

p.E450D

c.1350G>T

1 paper

NM_017617.5

p.E450fs

c.1348_1349fs

2 papers

NM_017617.5

p.D452E

c.1356C>G

2 papers

NM_017617.5

p.D452E

c.1356C>A

1 paper

NM_017617.5

p.V453L

c.1357G>C

4 papers

NM_017617.5

p.V453I

c.1357G>A

1 paper

NM_017617.5

p.E450V

c.1349A>T

1 paper

NM_017617.5

p.V453D

c.1358T>A