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.I471V

c.1411A>G

Surrounding Variants

2 papers

NM_017617.5

p.I471F

c.1411A>T

1 paper

NM_017617.5

p.I471S

c.1412T>G

4 papers

NM_017617.5

p.I471T

c.1412T>C

5 papers

NM_017617.5

p.I471N

c.1412T>A

1 paper

NM_017617.5

p.Q470H

c.1410G>T

1 paper

NM_017617.5

p.Q470H

c.1410G>C

1 paper

NM_017617.5

p.I471M

c.1413T>G

1 paper

NM_017617.5

p.Q470P

c.1409A>C

2 papers

NM_017617.5

p.G472W

c.1414G>T

1 paper

NM_017617.5

p.G472R

c.1414G>C

1 paper

NM_017617.5

p.G472R

c.1414G>A

3 papers

NM_017617.5

p.Q470*

c.1408C>T