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.N431Y

c.1291A>T

Surrounding Variants

1 paper

NM_017617.5

p.N431I

c.1292A>T

1 paper

NM_017617.5

p.N431S

c.1292A>G

2 papers

NM_017617.5

p.I430_N431del1

c.1289_1291delTGA

1 paper

NM_017617.5

p.I430T

c.1289T>C

5 papers

NM_017617.5

p.N431K

c.1293C>G

5 papers

NM_017617.5

p.N431K

c.1293C>A

14 papers

NM_017617.5

p.T432M

c.1295C>T

2 papers

NM_017617.5

p.C429W

c.1287C>G

1 paper

NM_017617.5

p.T432insFs

c.1294dupA

1 paper

NM_017617.5

p.C429*

c.1287C>A

3 papers

NM_017617.5

p.N431del1

c.1291_1292delGTT

1 paper

NM_017617.5

p.I430_N431del2

c.1288_1292del6