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.T887T

c.2661C>T

Surrounding Variants

4 papers

NM_017617.5

p.H888H

c.2664C>T

1 paper

NM_017617.5

p.H888Q

c.2664C>G

1 paper

NM_017617.5

p.H888Q

c.2664C>A

3 papers

NM_017617.5

p.G889S

c.2665G>A

1 paper

NM_017617.5

p.N886S

c.2657A>G

1 paper

NM_017617.5

p.A882_Q885delFs

c.2645_2654del10

1 paper

NM_017617.5

p.G890S

c.2668G>A

2 papers

NM_017617.5

p.Q885R

c.2654A>G

3 papers

NM_017617.5

p.Q885*

c.2653C>T

1 paper

NM_017617.5

p.C884W

c.2652C>G

1 paper

NM_017617.5

p.Y891H

c.2671T>C

1 paper

NM_017617.5

p.C884S

c.2651G>C