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.T559delFs

c.1676delG

Surrounding Variants

1 paper

NM_017617.5

p.G560W

c.1678G>T

5 papers

NM_017617.5

p.T559M

c.1676C>T

1 paper

NM_017617.5

p.T559R

c.1676C>G

1 paper

NM_017617.5

p.T559delFs

c.1675delT

2 papers

NM_017617.5

p.Y558*

c.1674C>G

2 papers

NM_017617.5

p.Y558_T559insFs

c.1674_1675insG

2 papers

NM_017617.5

p.Y558*

c.1674C>A

1 paper

NM_017617.5

p.Y558C

c.1673A>G

2 papers

NM_017617.5

p.Y558N

c.1672T>A

3 papers

NM_017617.5

p.T561M

c.1682C>T

1 paper

NM_017617.5

p.T561R

c.1682C>G

4 papers

NM_017617.5

p.H562Y

c.1684C>T