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.T2466fs

c.7396_7397fs

Surrounding Variants

1 paper

NM_017617.5

p.T2466insFs

c.7396_7397insGG

1 paper

NM_017617.5

p.P2465delFs

c.7395delG

4 papers

NM_017617.5

p.T2466M

c.7397C>T

1 paper

NM_017617.5

p.T2466R

c.7397C>G

2 papers

NM_017617.5

p.P2465fs

c.7393_7394fs

1 paper

NM_017617.5

p.T2466K

c.7397C>A

1 paper

NM_017617.5

p.T2466_S2467insFs

c.7398_7399ins8

1 paper

NM_017617.5

p.T2466_S2467insFs

c.7398_7399ins5

1 paper

NM_017617.5

p.T2466insFs

c.7397_7398insC

6 papers

NM_017617.5

p.T2466fs

c.7396_7397fs

1 paper

NM_017617.5

p.T2466T

c.7398G>A

1 paper

NM_017617.5

p.T2466Fs

c.7398delinsATATAGAAGCGAFs