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.P1581delins

c.4743delinsCTCATCGGTG

Surrounding Variants

1 paper

NM_017617.5

p.P1581_P1582ins4

c.4743_4744ins12

6 papers

NM_017617.5

p.P1581L

c.4742C>T

2 papers

NM_017617.5

p.P1582S

c.4744C>T

1 paper

NM_017617.5

p.P1582T

c.4744C>A

1 paper

NM_017617.5

p.P1581Q

c.4742C>A

1 paper

NM_017617.5

p.P1582L

c.4745C>T

1 paper

NM_017617.5

p.P1582ins3

c.4745_4746ins9

2 papers

NM_017617.5

p.M1580I

c.4740G>T

1 paper

NM_017617.5

p.P1582delins

c.4746delinsCGCT

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.P1582_E1583ins3

c.4746_4747ins9