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

9 papers

NM_017617.5

p.R2549C

c.7645C>T

Surrounding Variants

2 papers

NM_017617.5

p.R2549H

c.7646G>A

1 paper

NM_017617.5

p.A2548V

c.7643C>T

1 paper

NM_017617.5

p.A2548S

c.7642G>T

3 papers

NM_017617.5

p.A2548T

c.7642G>A

2 papers

NM_017617.5

p.I2550V

c.7648A>G

1 paper

NM_017617.5

p.I2550I

c.7650T>C

1 paper

NM_017617.5

p.Q2546Q

c.7638G>A

2 papers

NM_017617.5

p.P2551fs

c.7651_7652fs

2 papers

NM_017617.5

p.P2551delFs

c.7652delG

1 paper

NM_017617.5

p.E2552delFs

c.7654delC

1 paper

NM_017617.5

p.E2552fs

c.7654_7655fs

1 paper

NM_017617.5

p.S2545F

c.7634C>T