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.C350W

c.1050C>G

Surrounding Variants

1 paper

NM_017617.5

p.C350_H351insFs

c.1050_1051insGG

1 paper

NM_017617.5

p.C350S

c.1049G>C

1 paper

NM_017617.5

p.C350Y

c.1049G>A

1 paper

NM_017617.5

p.C350S

c.1048T>A

1 paper

NM_017617.5

p.H351H

c.1053T>C

1 paper

NM_017617.5

p.H351Q

c.1053T>A

3 papers

NM_017617.5

p.D352Y

c.1054G>T

4 papers

NM_017617.5

p.D352N

c.1054G>A

1 paper

NM_017617.5

p.C344_H351del8

c.1030_1052del24

2 papers

NM_017617.5

p.T349I

c.1046C>T

1 paper

NM_017617.5

p.T349delFs

c.1045delT

1 paper

NM_017617.5

p.T349fs

c.1045_1046fs