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.S883Y

c.2648C>A

Surrounding Variants

1 paper

NM_017617.5

p.S883P

c.2647T>C

1 paper

NM_017617.5

p.C884S

c.2650T>A

2 papers

NM_017617.5

p.A882A

c.2646A>T

1 paper

NM_017617.5

p.A882fs

c.2644_2645fs

1 paper

NM_017617.5

p.C884S

c.2651G>C

2 papers

NM_017617.5

p.A882V

c.2645C>T

5 papers

NM_017617.5

p.A882T

c.2644G>A

3 papers

NM_017617.5

p.G881delFs

c.2643delG

1 paper

NM_017617.5

p.C884W

c.2652C>G

2 papers

NM_017617.5

p.A882fs

c.2644_2645fs

3 papers

NM_017617.5

p.Q885*

c.2653C>T

1 paper

NM_017617.5

p.G881D

c.2642G>A