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.Y625*

c.1875C>A

Surrounding Variants

1 paper

NM_017617.5

p.Y625*

c.1875C>G

1 paper

NM_017617.5

p.Y625_L626Fs

c.1874_1876delinsCFs

1 paper

NM_017617.5

p.Y625_L626insAA

c.1873_1877ins6

1 paper

NM_017617.5

p.L626fs

c.1876_1877fs

1 paper

NM_017617.5

p.L626L

c.1878C>A

1 paper

NM_017617.5

p.A624V

c.1871C>T

1 paper

NM_017617.5

p.A624S

c.1870G>T

1 paper

NM_017617.5

p.C627insFs

c.1879dupT

1 paper

NM_017617.5

p.A624P

c.1870G>C

1 paper

NM_017617.5

p.C627Y

c.1880G>A

1 paper

NM_017617.5

p.A624T

c.1870G>A

2 papers

NM_017617.5

p.N623K

c.1869C>G