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.Y899*

c.2697C>G

Surrounding Variants

2 papers

NM_017617.5

p.Y899*

c.2697C>A

4 papers

NM_017617.5

p.A897A

c.2691C>T

1 paper

NM_017617.5

p.A897fs

c.2689_2690fs

8 papers

NM_017617.5

p.R902C

c.2704C>T

1 paper

NM_017617.5

p.A897D

c.2690C>A

7 papers

NM_017617.5

p.R902H

c.2705G>A

1 paper

NM_017617.5

p.C893_H894del2

c.2677_2681del6

1 paper

NM_017617.5

p.N903Y

c.2707A>T

1 paper

NM_017617.5

p.Q896*

c.2686C>T

1 paper

NM_017617.5

p.N903I

c.2708A>T

1 paper

NM_017617.5

p.N903S

c.2708A>G

1 paper

NM_017617.5

p.C895C

c.2685C>T