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.M1580insFs

c.4739_4740ins8

Surrounding Variants

2 papers

NM_017617.5

p.M1580I

c.4740G>T

4 papers

NM_017617.5

p.M1580insFs

c.4739dupT

1 paper

NM_017617.5

p.M1580_P1581ins2

c.4740_4741ins6

1 paper

NM_017617.5

p.M1580fs

c.4738_4739fs

2 papers

NM_017617.5

p.M1580I

c.4740G>C

2 papers

NM_017617.5

p.M1580I

c.4740G>A

3 papers

NM_017617.5

p.M1580fs

c.4738_4739fs

2 papers

NM_017617.5

p.L1579del1

c.4735_4737delCAG

1 paper

NM_017617.5

p.V1578_L1579del0

c.4732_4737del6

1 paper

NM_017617.5

p.L1579fs

c.4735_4736fs

6 papers

NM_017617.5

p.P1581L

c.4742C>T

1 paper

NM_017617.5

p.P1581Q

c.4742C>A