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

2 papers

NM_017617.5

p.C478S

c.1432T>A

Surrounding Variants

1 paper

NM_017617.5

p.C478G

c.1432T>G

2 papers

NM_017617.5

p.C478R

c.1432T>C

8 papers

NM_017617.5

p.C478F

c.1433G>T

2 papers

NM_017617.5

p.C478S

c.1433G>C

4 papers

NM_017617.5

p.C478Y

c.1433G>A

2 papers

NM_017617.5

p.I477M

c.1431C>G

2 papers

NM_017617.5

p.I477T

c.1430T>C

4 papers

NM_017617.5

p.I477N

c.1430T>A

1 paper

NM_017617.5

p.C478W

c.1434C>G

1 paper

NM_017617.5

p.I477V

c.1429A>G

1 paper

NM_017617.5

p.M479_P480insA

c.1435_1439ins3

1 paper

NM_017617.5

p.C478del1

c.1432_1433delGCA