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

4 papers

NM_017617.5

p.V1577_V1578del0

c.4729_4734del6

Surrounding Variants

1 paper

NM_017617.5

p.L1579fs

c.4735_4736fs

1 paper

NM_017617.5

p.L1579L

c.4735C>T

1 paper

NM_017617.5

p.V1578ins0

c.4732_4734dupGTG

46 papers

NM_017617.5

p.V1578del1

c.4732_4734delCAC

1 paper

NM_017617.5

p.A1571_V1578del8

c.4711_4733del24

1 paper

NM_017617.5

p.A1570_L1579delins

c.4708_4735delinsC

1 paper

NM_017617.5

p.V1578_L1579insFs

c.4734_4735insT

2 papers

NM_017617.5

p.V1578G

c.4733T>G

1 paper

NM_017617.5

p.V1578A

c.4733T>C

7 papers

NM_017617.5

p.V1578E

c.4733T>A

1 paper

NM_017617.5

p.L1579fs

c.4735_4736fs

1 paper

NM_017617.5

p.V1578M

c.4732G>A