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.V2476A

c.7427T>C

Surrounding Variants

1 paper

NM_017617.5

p.V2476E

c.7427T>A

1 paper

NM_017617.5

p.V2476fs

c.7426_7427fs

5 papers

NM_017617.5

p.V2476M

c.7426G>A

2 papers

NM_017617.5

p.P2475delFs

c.7425delG

2 papers

NM_017617.5

p.P2475fs

c.7423_7424fs

1 paper

NM_017617.5

p.T2477I

c.7430C>T

1 paper

NM_017617.5

p.T2477fs

c.7429_7430fs

1 paper

NM_017617.5

p.T2477delFs

c.7431delG

2 papers

NM_017617.5

p.P2474P

c.7422A>C

1 paper

NM_017617.5

p.P2474fs

c.7420_7421fs

1 paper

NM_017617.5

p.P2474delFs

c.7421delG

1 paper

NM_017617.5

p.A2478fs

c.7432_7433fs