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.P480delins

c.1439_1440delinsTT

Surrounding Variants

2 papers

NM_017617.5

p.P480P

c.1440C>T

1 paper

NM_017617.5

p.G481R

c.1441G>C

4 papers

NM_017617.5

p.G481S

c.1441G>A

1 paper

NM_017617.5

p.P480L

c.1439C>T

1 paper

NM_017617.5

p.G481Splc

c.1441+1G>T

2 papers

NM_017617.5

p.G481Splc

c.1441+1G>A

1 paper

NM_017617.5

p.P480S

c.1438C>T

1 paper

NM_017617.5

p.G481Splc

c.1441+2T>A

1 paper

NM_017617.5

p.G481Splc

c.1441+4C>T

1 paper

NM_017617.5

p.M479_P480insA

c.1435_1439ins3

1 paper

NM_017617.5

p.C478del1

c.1432_1433delGCA

1 paper

NM_017617.5

p.C478W

c.1434C>G