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

8 papers

NM_017617.5

p.P2462fs

c.7384_7385fs

Surrounding Variants

1 paper

NM_017617.5

p.A2463S

c.7387G>T

1 paper

NM_017617.5

p.P2462insFs

c.7385_7386dupCC

5 papers

NM_017617.5

p.A2463T

c.7387G>A

9 papers

NM_017617.5

p.P2462delFs

c.7386delG

1 paper

NM_017617.5

p.P2462L

c.7385C>T

4 papers

NM_017617.5

p.A2463fs

c.7387_7388fs

1 paper

NM_017617.5

p.P2462S

c.7384C>T

1 paper

NM_017617.5

p.S2461insFs

c.7382_7383dupGC

1 paper

NM_017617.5

p.A2463delFs

c.7387delC

1 paper

NM_017617.5

p.S2461delFs

c.7382_7383delGC

4 papers

NM_017617.5

p.A2463fs

c.7387_7388fs

1 paper

NM_017617.5

p.S2461fs

c.7381_7382fs