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.E1563D

c.4689G>C

Surrounding Variants

1 paper

NM_017617.5

p.E1563D

c.4689G>T

1 paper

NM_017617.5

p.H1564Y

c.4690C>T

3 papers

NM_017617.5

p.E1563*

c.4687G>T

1 paper

NM_017617.5

p.C1561_A1562del2

c.4681_4685del6

2 papers

NM_017617.5

p.H1564P

c.4691A>C

1 paper

NM_017617.5

p.V1565I

c.4693G>A

1 paper

NM_017617.5

p.A1562E

c.4685C>A

1 paper

NM_017617.5

p.C1561*

c.4683T>A

1 paper

NM_017617.5

p.V1565_P1566insFs

c.4695_4696ins11

1 paper

NM_017617.5

p.C1561S

c.4682G>C

2 papers

NM_017617.5

p.C1561Y

c.4682G>A

1 paper

NM_017617.5

p.P1566A

c.4696C>G